Music (and Tonal Language) and the art of being human – III

Music (and Tonal Language) and the art of being human – III – Published 6 January 2011
o Felix ID Konotey-Ahulu, Dr Kwegyir Aggrey Distinguished Professor of Human Genetics University of Cape Coast Ghana

Consultant Physician Genetic Counsellor in Sickle Cell & Other Haemoglobinopathies 10 Harley St Lond
Dr John Matthews (Dec 11, p 1274) has shown that, contrary to popular perception, a doctor can have interests far beyond the consulting room. His most excellent review [1] of Philip Ball’s book covering music and the brain [2] deserves a 3-part response: Part I dealt with Music, the brain, and language. Part II tackled Origins and what it means to be human. Part III now suggests some meaningful research approaches.

MEANINGFUL RESEARCH APPROACHES
If Science is not equipped to determine how language originated, or how music inspires and gives balm to troubled minds, does that mean there cannot be meaningful research here? Not at all! What this means is that I should not spend my time investigating “how language evolved”, but rather relating what we already know in Music and Language, especially Tonal Linguistics, to what Dr Matthews indicates could be various brain responses through “functional magnetic resource imaging and positron emission tomography” [1], not to mention novel tools for probing the science of Glossogenetics.
Last year I discussed with Professor George Ebow Bonney and Professor Gloria Dunston of the Howard University National Human Genome Centre in Washington DC, USA, how an interdisciplinary project involving Tonal Linguistics, Music, Neurophysiology, History, Geography, Psychology, Anthropology, Glossogenetics, Genome Sequencing, Informatics, and even Egyptology [18] could be initiated. Professor Ayi Kwei Armah, the brilliant Ghanaian author and expert in Hieroglyphics has discovered that the ancient Egyptian name for parrot is “akoo” which is identical to what we call the bird in no less than 8 tribes in West Africa, from Yoruba land in Nigeria , right across to Ghana (Ewe, Krobo-Dangme-Ga, Twi, Fante) and up to Senegal [19]. We must research to find what other ancient Egyptian words are found in black African tribes. [18] Here is another interesting fact: Just the two letters ‘f’ and ‘a’ of the Ga alphabet can be used (with my sound colouring technique) to express reproducibly no less than 75 words, phrases, and sentences in the language, capable of being read by anyone who can sing Tonic Solfa [20]. The phenomenon of mid pitch arrest in Krobo-Dangme [3 4 6 18 20] and of lower mid pitch arrest in Ga [21] is not found in English, but I have discerned the former in Yoruba and in Kikuyu [20]. Research will reveal which other African tribes, or indeed ethnic groups world-wide display this phenomenon. How are they related genetically?
Is the Japanese genome related in any way to the Krobo genome because Nihongono phonates exactly like the Krobo-Dangme “e ji lolo” which means “she/he has not yet left”? When both are hummed, or sung, there is no acoustic difference whatever, and the Tonic Solfa of both is identical, s (low pitch) s (octave high) m m showing no difference between the Japanese and Krobo/Dangme intonations. [3 20]. Please try singing s (low) s (high) m (mid pitch) m (mid pitch) and you would have hummed Japanese and my native Krobo language. Any BMJ reader should be able to do this. It is that easy. These research projects in Linguistics/Tonal Linguistics could be as fruitful in shedding light on brain function, as those that Dr Matthews would like done in Music. If I phonated in my head (ie inaudibly) an arrested Krobo vowel in mid pitch (m) and then dropped 2 semitones to a Ga lower mid pitch vowel (r) would I be able to capture the vowels on a brain scan? Would it be possible to devise a “lie test” for interrogating a suspect who refused to answer questions, using a scan to detect silent tonal language sounds in the head? I can hum Tonic Solfa in my head, and arrest pitches at certain levels as I wish. In Krobo-Dangme the word ‘bo’ pronounced in mid pitch means cloth, but pronounced with low pitch means “to rub”. Will it be possible to record these pitches accurately even without phonating them aloud?
If, with Julie Andrews in “Sound of Music” [22], you can begin to sing “doe, a deer, a female deer…” you will, with the first note, have struck the invaluable 3rd mid pitch in Krobo/Dangme-Ga which, substituting a ‘y’ for Julie’s ‘d’, phonates exactly like the affirmative word “yes” in the language [20]. My colour for this 3rd mid pitch (d) which is also 2 semitones below lower mid pitch (r) is brilliant green [20]. When this particular pitch is arrested to sing Julie Andrews’ ‘doe’ (but with a ‘y’) the resulting word ‘yoe’ means ‘yes’ [20]. Which other tribes have a fixed, reproducible-in-tonic-solfa pitch for “yes”? Would the tribes be related genetically? The avenues for profitable research are protean [23]. Braille can be developed to discern pitch colour for the blind, and the coloured vowels for pitch are ideal for the deaf and tone-deaf. It can be truly said that my entire tribe has perfect pitch in more senses than one: anyone can go straight to a particular pitch in Tonic Solfa without reference to any preceding or succeeding note. Is this the reason why Aficans and African Americans are so musical?

CURRENT GENOME SEQUENCING CONSORTIUM AND LANGUAGE RESEARCH
The present on-going Human Genome Sequencing exercise which Professor George Bonney, Professor Gloria Dunston and I discussed last year [18] could be used to probe some of these aspects of language (and music), remembering at least 3 caveats:
(i) Researchers need to be careful not to miss the genomic wood for the DNA trees
(ii) Nature and nurture must be kept in perspective. There is what I call a quadrilateral interpretation of findings: (a) what is observed is due to nature (genes) alone (b) findings are the result of environment (nurture) alone (c) what you observe is due to both nature and nurture interaction (d) nature and nurture have little to do with the facts.
(iii) Avoid the mistake of deciding exactly what genome sequencing is going to reveal before the work is done [24]. To decide ahead that one tribe’s appreciation of music is more “civilised” than another is to make a serious mistake. This is why in African Anthropogenetics, with all the linguistic ramifications, to do genome sequencing anonymously as is happening now is not at all the right way forward. [25 26 27]

WONDER OF THE INTERNET
If you find all this difficult, take heart because youcan read, and see, and hear it all on line – free of charge. Fortunately, because of the internet anybody reading this can verify the truth of what I have been saying. One can read the colours of the sound pitches, and even phonate the Tonic Solfa of all 75 Ga words, phrases, and sentences formed with the letters ‘f’ and ‘a’ by just clicking http://bit.ly/bEdcc4. [20] One can also verify that the non-tonal English word “agriculture” which, though capable of being understood when pronounced entirely in monotones, nevertheless has 4 quantifiable pitches in Queen’s English; one is invited to down load the 42-page information with colour, free of charge. [20] Indeed, the internet allows me to demonstrate (vocally) to any reader of the BMJ what the Tonic Solfa of my Millennium Hymn [28] sounds like, and (visually) to see me in the flesh singing the hymn while the Tonic Solfa flashes on the screen. Readers may even see me piano-playing the Millennium Hymn all 7 verses of which appear on the screen by typing http://bit.ly/cRrZ0s [28]. As each of the verses ends with the word ” Bethlehem ” I take this opportunity to wish BMJ readers A HAPPY CHRISTMAS AND A HEALTHY NEW YEAR!
F I D KONOTEY-AHULU FGA MD(Lond) FRCP(Lond) FGCP DTMH(L’pool) FTWAS FAAS FWACP ORDER OF THE VOLTA GHANA felix@konotey-ahulu.com
18 Konotey-Ahulu FID. Global Genome Sequencing: Some Ethical Considerations. In Howard University National Human Genome Center Post- Inaugural Symposium on “1000 Genomes Project: On the Frontier of Personalized Medicine”. Washington , DC January 23 2009 http://bit.ly/gs65RD .
19 Armah Ayi Kwei. The Eloquence of the Scribes – a memoir on the sources and resources of African literature. PER ANKH 2006. Popenguine. Senegal (page 190)
20 Konotey-Ahulu FID. Tonic Solfa Is The Foundation Of Tonal Linguistics. DRUMSPEAK (Supplement) International Journal of Research in the Humanities. New Series Volume 3. No. 1, May 2010. Faculty of Arts, University of Cape Coast , Ghana . ISSN (0855-9945). [Lecture given on Monday 12 October 2009, University of Cape Coast in the Occasional Lecture Series during the 40th Congregation. [Publications Unit, University of Cape Coast, Ghana] http://www.bit.ly/bEdcc4 (Down load Free).
21 Konotey-Ahulu FID. Discoveries and New Insights into Tonal Linguistics Facilitate Reading of Mother Tongue: Introducing The Ephraim Amu Principle. The 10th Dr Ephraim Amu Memorial Lecture – Ghana Academy of Arts & Sciences at The British Council, Accra , 13th May 2010. [Report by Dr Doris Yaa Dartey: Ghanaian Times Friday 21 May 2010 “New insight into ‘Tonal Linguistics’ at the 10th Ephraim Amu Memorial Lecture in Accra by Dr [Konotey-Ahulu – ‘Colour the sounds to differentiate the pitches’ – Pregnant women need folic acid to prevent babies with cleft palate’ ]. Video is available.
22 Andrews Julie. The Sound of Music. Broadway Musical 1959. Film Musical 1965.
23 Konotey-Ahulu FID. The Human Genome Diversity Project: Cogitations of An African Native. Politics and the Life Sciences (PLS) USA 1999, Vol 18: No 2, pp 317-322. Symposium in PMID: 12561789 PubMed indexed for MEDLINE
24 Verkaik Robert. Revaled: Scientist who sparked racism row has black genes. The Independent, London , December 10, 2007.
25 Announcement: International Consortium Announces the 1000 Genomes Project. Major Sequences Effort Will Produce Most Detailed Map of Human Genetic Variation to Support Disease Studies. (Tuesday January 22, 2008). http://www.1000genomes.org/files/1000Genomes-NewsRelease.pdf
26 Wise Jaqui. Consortium hopes to sequence genome of 1000 volunteers. BMJ 2008; 336: 237, Feb. 2.
27 Konotey-Ahulu FID. There is but one human race. New African, London . Dec. 2009, page 4.
28 Konotey-Ahulu Felix ID. Millennium Hymn: Time Was Created. Words (7 verses) http://bit.ly/cRrZ0s
Competing interests: None declared
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Published 20 December 2010
3.
Music (and Tonal Language) and the art of being human – II
o Felix ID Konotey-Ahulu, Dr Kwegyir Aggrey Distinguished Professor of Human Genetics University of Cape Coast Ghana
Consultant Physician Genetic Counsellor in Sickle Cell & Other Haemoglobinopathies 10 Harley St Lond
Dr John Matthews (Dec 11, p 1274) has shown that, contrary to popular perception, a doctor can have interests far beyond the consulting room. His most excellent review [1] of Philip Ball’s book covering music and the brain [2] deserves a 3-part response: Part I dealt with Music, the brain, and language. Part II tackles Origins and what it means to be human. Part III suggests meaningful research approaches.

THE ART OF BEING HUMAN
A fundamental part of being human, as John Matthews and Philip Ball emphasize, is to have a brain that is capable of producing music and language. But as the nightingale also sings and the musical chatter of the black bird (Tardus merula) between April and September in the northern hemisphere is capable of being written down in Tonic Solfa as I have done annually in recent years, I can boldly say that producing language, even more than producing music, is the one most characteristic feature of being human. Animals, including birds, can make music, and communicate intelligently, but only human beings have language with all its five levels for communicating information, namely Statistics, Syntax, Semantics, Pragmatics, and Apobetics (thanks to the insight of such experts as Claude Shannon, Noam Chomsky, and Werner Gitt) [9-11]. This is why I have added in brackets “Tonal Language” to the title of Dr Matthews’ article which includes the term “being human”.

THE ORIGIN OF LANGUAGE
Dr Matthews states that “music could hardly be there by chance”. A greater truism is hard to find. He mentions “the perplexing problem of music’s origin” and goes on: “We do not know how or why music started, what the predisposing factors were, or even the form in which the earliest manifestations evolved.” [1] After looking for “a selection advantage” related to “community bonding” Dr Matthews concludes: “We are left surmising”. Well, I turn to 2 famous Nobel Laureates in Physiology/Medicine who, thinking scientifically, tackled the problem of “origins”. First, I turn to Sir Francis Crick (who better?). In a brilliant 13-page scientific exposition to crack “The origin of the genetic code”, Crick was out of his depth, and he admitted as much. [12] Like Dr Matthews, he was “left surmising” [1], so much so that 13 years later the great Francis Crick was constrained to write: “An honest man, armed with all the knowledge available to us now, could only state that in some sense, the origin of life appears at the moment to be almost a miracle. …”. [13]. Wow! Francis Crick has used the word “miracle”?
The other Nobel Prize winner in Medicine/Physiology who discussed origins is my favourite thinker. Writing in his book “The Limits of Science” Professor Sir Peter Medawar makes a comment that goes a long way to shedding light on Dr Matthews’ “perplexing problem of music’s origin”. Professor Medawar states that questions of ultimate origins are “beyond the explanatory competence of science” [14, page xiii], and this: “That there is indeed a limit upon science is made very likely by the existence of questions that science cannot answer and that no conceivable advance of science would empower it to answer” [14, page 68]. So here is one genius, the DNA genius, describing the origin of life (and hence of language, and music) as a “miracle”, while the other Nobel genius says Science need not even bother tackling ultimate origins because Science does not only not have the equipment to probe ultimate origins, but also that it will never have that equipment. In the BMJ I once described as supra-scientific 4 clinical facts in my experience that Science could not explain. [15]. I place the origin of Language and Music in the same supra-scientific category. As I also said in the Journal of the Royal Society of Medicine earlier this year “Origin of the genetic code is supra-scientific” [16], it becomes clear that the origin of music and language must also be supra- scientific.

THE ART OF BEING HUMAN IS ITSELF SUPRA-SCIENTIFIC
There must be aspects of Dr Matthews’ fruitful work with patients and music that do not admit of scientific dissection. It is possible for me to imagine some of his grateful patients with severe arthritis saying “the pain is gone suddenly”, after listening to some moving music, such as the Bulgarian National Choir singing that amazingly magnificent Chorus of the Hebrew Slaves. I would find that just as scientifically inexplicable as the case of the middle aged accountant I once described in the BMJ who suddenly lost his right upper quadrant abdominal pain and the Murphy’s sign of cholelithiasis when he was told “the stone has disappeared”, while in fact the gall stone was later shown by ultrasound to be well and truly still in situ. [15] Music be it enchanting or cacophonous, is indeed the art of being human, which itself is also beyond Science. Furthermore, although “music and the brain” equates to “music and the psychological”, that is not the same as “music and the spiritual” because the spiritual connotes a greater dimension for what it means to be human – a dimension I once showed also in the BMJ [17] to be so different from the psychological that Science has no tools to fathom it.
F I D KONOTEY-AHULU FGA MD(Lond) FRCP(Lond) FGCP DTMH(L’pool) FTWAS FAAS FWACP ORDER OF THE VOLTA GHANA felix@konotey-ahulu.com
9 Shannon Claude E. The Mathematical Theory of Communication. University of Illinois Press 1949 ( Urbana II).
10 Chomsky Noam. Linguistic Contributions to the Study of Mind (Future). Harcourt Brace Jovanovich 1968 http://bit.ly/egkZi1 “By pursuing the kind of research that now seems feasible we can acquire the highly specific way of interpreting phenomena that are in large measure beyond our consciousness and control and that may be unique to man”.
11 Gitt Werner. In the beginning was Information. Christliche Literatur-Verbretung e.V. Postfach 110135.33661 Bielefeld, Germany, 2001. [Professor Werner Gitt coined the word ‘apobetics’ to illustrate the highest of the 5 levels of communication in humans]
12 Crick FHC. The origin of the genetic code. J Mol. Biology 1968: 38: 367-379.
13 Crick FHC. Life itself: its nature and origin. Simon and Schuster, New York 1981, p 88.
14 Medawar Peter. The Limits of Science. Oxford . Oxford University Press, 1985.
15 Konotey-Ahulu FID. The supra-scientific in clinical medicine: a challenge for Professor Know-All. BMJ 2001; 323(7327): 1452-1453 (22-29 Dec). http://www.bmj.com/cgi/reprint/323/7327/1452.pdf doi:10.1136/bmj.323.7327.1452
16 Konotey-Ahulu FID. Origin of the genetic code is suprascientific. JRSM March 15 2010 http://www.sicklecell.md/blog/?p=46 Response to James Le Fanu “The disappointments of the Double Helix” Feb 2010.
17 Konotey-Ahulu FID. Personal View: The spiritual and the psychological in Clinical Medicine. BMJ 1977; 1: 1595. (June 15) doi:10.1136/bmj.1.6076.1595 http://www.bmj.com/content//1/6076/1595.full.pdf
Competing interests: None declared
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Published 20 December 2010
4.

Music (and Tonal Language) and the art of being human – I
o Felix ID Konotey-Ahulu, Dr Kwegyir Aggrey Distinguished Professor of Human Genetics University of Cape Coast , Ghana
Consultant Physician Genetic Counsellor in Sickle Cell & Other Haemoglobinopathies 10 Harley St Lond
Dr John Matthews (Dec 11, p 1274) has shown that, contrary to popular perception, a doctor can have interests far beyond the consulting room. His most excellent review [1] of Philip Ball’s book covering music and the brain [2] deserves a 3-part response: Part I deals with Music, the brain, and language. Part II tackles Origins and what it means to be human. Part III suggests meaningful research approaches.

MUSIC AND THE BRAIN
Dr John Matthews is right in stating “Music stimulates more parts of the brain than any other intellectual activity.” [1], and that these parts “are shared with other activities, such as language..”, especially, in my opinion, Tonal Language. I have proven that my Ghanaian language Krobo/Dangme-Ga can be read like music [3-5], and that the best way to evaluate Tonal Language is not through the piano, flute, violin, or organ but with Tonic Solfa.

TONIC SOLFA, TONAL LANGUAGE, AND THE BRAIN
Tonic Solfa is an extraordinary musical phenomenon. It was invented by Guido Arezzo, a musically talented monk who was born in 991 AD. Tonic Solfa was taught to my ancestors by the Swiss-German Basel missionaries who went to our tribe in 1828. When the British Colonial Government of the Gold Coast ( Ghana ) deported them during the First World War, Scottish Presbyterians took over the work, and continued teaching every pupil how to sing in Tonic Solfa. That was how I came to learn Tonic Solfa the marvel of which is that whereas any piece of music can be played recognisably in all the 12 keys of the piano there is just one way a particular piece of music can be sung in Tonic Solfa. [3-5] For example, the British national anthem “God save the Queen” can be played in 12 different keys (though traditionally Key G major ie F sharp is used), but the brain is so programmed that there is just one way it can be sung in Tonic Solfa: doe doe re ti doe re mi mi fa mi re doe re doe ti doe (d d r t: d r m m f m: r d r d t d). Similarly, my Mother Tongue can be phonated in Tonic Solfa one way only. Every vowel (without prolonging it) has at least 4 different ways of pronouncing it, giving 4 different meanings to the same consonant [3-5]. As nasalisation (quality) of the vowel at each pitch gives the word a different meaning, one can find that the word written ta (without prolonging the ‘a’) can mean, as I pointed out in the Lancet, chew, palm tree, war, giant ant, narrate, and fish out [6]. The brain of a Krobo child is capable of distinguishing the 6 different meanings of that word ta [6], a feat that defeats many a European expert in Linguistics. .

HUMAN SPEAKING VOICE SPANS AN OCTAVE
I have proven before that the normal speaking human voice spans an octave. One can say everything one wants to say (at least in Tonal Linguistics) using just an octave. Starting from d and going through the d r m scale to the next d is traversing an octave. Filling in the pitches between the 12 keys on the piano one can discern d de r ma me f fe s se la ta t d [13 keys], the space between each key is a semi-tone.[3 4 7] Using one particular phrase in The Hallelujah Chorus of Handel’s Messiah “For The Lord God Omnipotent reigneth” I have shown that the brilliant octaves that Handel introduced in that short phrase reflect exactly the octaves not only in tribal linguistics, but also in spoken English! [3 4 7] Just pronounce the English word “agriculture” (slowly) in Queen;s English. My African ear automatically discerns 4 pitches, a high pitch (‘a’), a low pitch (‘ture’), a mid pitch just below high pitch (‘gri’), and a lower mid pitch (‘cul’). These are fixed pitches that can be characterised as follows: high pitch is an octave above low pitch (just as Handel’s ‘God Om..’ is an octave), mid pitch is exactly 3 semitones below high pitch, and lower mid pitch is exactly 2 semitones below mid pitch.[3 4 7] This information is not in Professor David Crystal’s impressive 484-page book ‘THE CAMBRIDGE ENCYCLOPOEDIA OF LANGUAFGE’ [8]. The brain that is capable of recognising these pitch differences in order to discern one accent from another in the same language, or to distinguish one language from another, or to appreciate one piece of music more than another is remarkable to say the least. To facilitate appreciation of these pitch differences so that written text is correctly readable in Tonal Linguistics I decided to colour them to help even illiterates read their tribal language more easily than when the missionaries wrote them. [4 7]

COLOURING SOUND
I colour high pitch red. Using Key C major for convenience, high pitch corresponds to s or G above middle C, and mid pitch which is 3 semitones below high pitch, I make green, and becomes m or E above middle C. Lower mid pitch then becomes r ie 2 semitones below mid pitch (lime green), before descending to the low pitch s (G below middle C, ie an octave below the high pitch s), which I make blue. [4 7]. Anybody can be taught to pronounce “Agriculture” in Queen’s English by just associating the colours of the 4 vowels with the pitches. I have done the same with Japanese. [4 7] The pronunciation of “Japanese” in Japanese is Nihongono (‘Ni’ low pitch blue, ‘ho’ high pitch red, ‘ngo’ mid pitch green, ‘no’ mid pitch green) – see references 4 and 7 on line for a visual appreciation of these novel approaches to Tonal Linguistics.
F I D KONOTEY-AHULU FGA MD(Lond) FRCP(Lond) FGCP DTMH(L’pool) FTWAS FAAS FWACP ORDER OF THE VOLTA GHANA felix@konotey-ahulu.com
1 Matthews John A. Music and the art of being human. BMJ 2010; 341:c6965 http://www.b,j.com/content/341/bmj.c6965
2 Ball Phillip. The Music Instinct: How Music Works and Why We Can’t Do Without It. Bodley Head, pp 464. ISBN: 978-1847920881
3 Konotey-Ahulu FID. Mother Tongue: The Tadka Phonation Technique for speaking an African Tonal Language – Krobo/Dangme/G? of South-East Ghana . Watford 2001, UK . ISBN 0-9515442-4-1. [To facilitate tribal health education in the Mother Tongue]
4 Konotey-Ahulu FID. The Remarkable African Ear: Phenomenon of Mid Pitch Arrest in Krobo-Dangme-G? Tonal Linguistics of South East Ghana . African American Museum of Philadelphia Award Lecture May 5 2007 http://bit.ly/i5APah
5 Konotey-Ahulu FID. How To Avoid Losing Our Mother Tongue. Substance of Lecture given at the British Council Accra November 2007 for Ghana @50. Ghana Academy of Arts & Sciences – President Dr Letitia Obeng President chairing. Guest of Honour Nene Sakite II, Konor of Manya Krobo, – honours Professor Felix I Domeno Konotey-Ahulu with Citation Plaque of Klo Hingmer (Eye of Krobo). http://www.modernghana.com/GhanaHome/NewsArchive/news_details.asp
6 . Konotey-Ahulu FID. Black people’s red faces and AIDS prevention. Lancet 2000; 355(9214):1559. PMID: 10801206 [PubMed-indexed for MEDLINE]
7 Konotey-Ahulu FID. Social pathology of Cleft Palate in The African: Mathematical Precision of Pitch Gaps in Tribal Tonal Linguistics. Ghana Medical Journal 2008; 42: 89-91. (June 2008). PMID: 19180210 http://bit.ly/f8dVG3
8 Crystal David. THE CAMBRIDGE ENCYCLOPEDIA OF LANGUAGE. Cambridge University Press. Second Edition, 1997.
Competing interests: None declared

Ethics of mitochondrial gene replacement is also ethics of acquired genetic inheritance

www.bmj.com Posted in British Medical Journal on November 19, 2010

Felix ID Konotey-Ahulu, Dr Kwegyir Aggrey Distinguished Professor in Human Genetics University of Cape Coast Ghana
Consultant Physician Genetic Counsellor in Sickle Cell & Other Haemoglobinopathies 10 Harley St London W1G 9PF

Annelien Bredenoord and Peter Braude (8 November) have placed readers of the BMJ in their debt not only by meticulously dissecting the ethical and other dilemmas associated with this particular frontier of genetic research and impending practice, but also by calling for “a transparent public debate” [1]. I join the debate by briefly commenting on (a) Consequences of mitochondrial gene replacement (b) Legality (c) Ethics (d) Informed Consent.
CONSEQUENCES
I coin the term “acquired
More…
Annelien Bredenoord and Peter Braude (8 November) have placed readers of the BMJ in their debt not only by meticulously dissecting the ethical and other dilemmas associated with this particular frontier of genetic research and impending practice, but also by calling for “a transparent public debate” [1]. I join the debate by briefly commenting on (a) Consequences of mitochondrial gene replacement (b) Legality (c) Ethics (d) Informed Consent.
CONSEQUENCES
I coin the term “acquired genetic inheritance” which normally does not make sense, except that what we are talking about is “irreversibility of germ line modification” [1] which is passed on to offspring after offspring, not initiated genetically but instantly inherited through an acquired process. An enlightened offspring is one day entitled to ask “Why was such and such acquired for me and my future children?”, where “such and such” could be any unanticipated genetic defect resulting from the process.
LEGALITY
The legal process that will allow mitochondrial gene replacement depends entirely on where this is done in the world. If the British Parliament votes for it then it will be legal; if not, it will be illegal to practise it in the UK . Laws are not static – one parliament may say “No”, while the next may approve. Society gets the law it deserves. “The deliberate creation of human embryos for research . . .is legally prohibited in many countries” say Annelien Bredenoord and Peter Braude [1], so one wonders what happens when the country is not democratic, and dictators can say what must happen and what must not happen, and to whom? Who enacted Germany ‘s laws during the Nazi regime? [2]
ETHICS
“Ethics” I once said at a Human Genome Diversity Project Symposium “is sometimes not the first thing considered in the excitement of advances in scientific endeavour” [3] but as the article of Bredenoord and Braude makes abundantly clear, what is considered unethical by one group of scientists makes others take a different view: “the deliberate creation of embryos for research should be allowed under strict conditions” [1]. But what are these “strict conditions” that Annelien Bredenoord and Peter Braude have in mind?
I was for many years on the Ethics Committee of a leading UK Private Hospital that gave In Vitro Fertilisation consultations. The Chair-person was a Judge who presided over 10 of us that included another judge, an Obstetrician Gynaecologist, 2 Family Practitioners, a Consultant Physician/Neurologist, a Rabbi, a Consultant Physician/Nephrologist, the Matron of the Hospital, and 1 African, myself (Consultant Physician/Genetic Counsellor). Many were the requests from clients who begged for things they wanted done, but which we turned down unanimously – requests that other Ethics committees in the UK might well have approved simply because they were not illegal. Twice a year we made trips to Cambridge to visit (now) Nobel Laureate Robert Edwards whom I mentioned recently [4] had convened a panel of 30 of us under the auspices of the World Council of Churches on 25 June 1973 in Zurich to thrash out the ethics of what he was then embarking on [5]. I wonder what Bob Edwards now makes of the galloping pace of what is happening at the frontiers of Human Genetics.
INFORMED CONSENT
“A third question” asks Bredenoord and Braude “is how to guarantee adequate informed consent given the complexity of technical information, high uncertainty, and competing interests”? [1] Quite so! Leaving the UK aside and moving to the Third World scenario, we are told by the International Consortium sequencing 1000 genomes globally that “A thousand volunteers have already been recruited from Africa, Asia, America, and Europe” [6] and that the African volunteers who had given informed consent were the “Maasai in Kinyawa, Kenya”, the “Yoruba in Ibadan, Nigeria” and “Luhya in Wabuye, Kenya” [7]. I would dearly want to know how “the complexity of technical information” surrounding the genome sequencing exercise was explained to my fellow African natives. Of course we cannot check any details of what was communicated to them because the whole exercise was officially done “anonymously” [6 7]. Bredenoord and Braude have been impressively transparent in marshalling their theses but could we say that about some researchers who, denied the opportunity in their own countries to do forbidden research, would not hesitate to go to Guatemala with plenty of money in foreign exchange to move mitochondrial gene replacement from bench to the bedside? [8 9].
LOOKING FOR THE PERFECT BABY?
I myself am a bundle of funny genes, one of which is the Mendelian dominant extra digits [10], which (before the Swiss Basel missionaries went to the Gold Coast in 1828) some tribes east of us the Krobo people had considered so reprehensible that affected babies were drowned [10]. So appalled I was when I came to England to study Medicine to find that babies that would be born with the same sickle cell disease phenotype as 3 of my siblings were also recommended routinely to be aborted here legally that I later wrote to the BMJ:
“I was born in the Krobo tribe with extra digits – a Mendelian dominant condition with a 1% incidence at birth in Ghana . Had I been born a few miles south east across the Volta River , there would have been great rejoicing because local tribesmen had it that I was destined to be rich. If my mother had given birth to me a few miles north-west beyond the hills, I would not be here to write to you – I would have been drowned soon after birth. Fortunately the Krobo’s were neutral to extra digits but until the government forbade the practice some tribal elders took it on themselves to decide which genes ought to be allowed to survive!” [10]. I went on “Now some scientific tribesmen in the UK ” were similarly deciding which genes should be allowed to remain and which not [10]. Even those with sickle cell disease have been found in Ghana to have other genes which enabled them to achieve great things in life [11]. Some parents do not lightly consider having a baby with a known pathology, of course they don’t, but if the modern attitude is to go to all lengths, including irreversibly changing the germ line of future generations through replacing mitochondrial genes then many reasonable people will consider that a step too far. As regards the great importance of public debate on this vital matter I conclude with the words of a wise man, Sir David Weatherall FRS:
“Whether by opening up public debate about the long-term possibilities of genetic engineering we can prevent its gross misuse, either politically or in other ways, is for future generations to determine. But there is no reason for not trying. One of the major concerns about human genetic manipulation is that our track record in the ethical aspects of human genetics is not entirely reassuring” [12]. In any case, Africans are scared stiff of genetic and genomic studies practised on them however carefully researchers explain exactly what they are doing and obtain “informed consent”. [3]
Conflict of interest: Nothing to declare
Felix I D Konotey-Ahulu FGA MD(Lond) FRCP DTMH ORDER OF THE VOLTA ( GHANA )
Kwegyir Aggrey Distinguished Professor of Human Genetics, University of Cape Coast and Consultant Physician Genetic Counsellor in Sickle Cell and Other Haemoglobinopathies, 10 Harley Street, London W1G 9PF felix@konotey-ahulu.com
1 Bredenoord Annelien L, Braude Peter. Ethics of mitochondrial gene replacement: from bench to bedside. BMJ 2010; 341:c6021 doi: 10.1136/bmj.c6021 http://www.bmj.com/content/341/bmj.c6021?papertoc= Nov 8
2 Muller-Hill Berno. Murderous Science: Elimination by Scientific Selection of Jews, Gipsies, and Others – Germany 1933-1945. [Translated from German by G R Fraser] Oxford , Oxford University Press, 1988.
. 3 Konotey-Ahulu FID. The Human Genome Diversity Project: Cogitations of an African Native. Politics and The Life Sciences (PLS) Volume 18 Number 2, September 1999, pages 317-322 [Symposium PMID: 12561789 PubMed indexed for MEDLINE]
4 Konotey-Ahulu FID. Genius of Nobel Laureate Robert Edwards goes beyond IV F. http://www.bmj.com/content/341/bmj.c5533/reply#bmj_el_243005 BMJ Rapid Response, 14 October 2010.
5 World Council of Churches. Genetics and the Quality of Life: Study Encounter Vol X, No 1 1974. Report of a Consultation: Church and Society, Christian Medical Commission, World Council of Churches, Zurich , June 1973, Switzerland (Chairman Dr Robert Edwards)..
6 Wise Jaqui. Consortium hopes to sequence genome of 1000 volunteers. BMJ 2008; 336: 237 (February 2).
7 Announcement: International Consortium Announces the 1000 Genomes Project. Major Sequencing Effort Will Produce Most Detailed Map of Human Genetic Variation to Support Disease Studies. (Tuesday January 22 2008). http://www.1000genomes.org/files/1000Genomes-NewsRelease.pdf
8 Tanne Janice Hopkins. President Obama apologises to Guatemala over 1940’s syphilis study. BMJ 2010: 341. c5494 October 9, page 750. http://www.bmj.com/content/341/bmj.c5494.full
9 Konotey-Ahulu FID. President Obama apologises over Guatemala syphilis study: International co-operative research in jeopardy. BMJ Rapid Response http://http://www.bmj.com/content/341/bmj.c5494.full/reply#bmj_el_243183 Oct 17 2010.
10 Konotey-Ahulu FID. Ethical issues in pre-natal diagnosis. BMJ 1984; 289: 185 http://www.bmj.com/cgi/reprint/289/6438/185-a.pdf
11 Amanor-Boadu Dorothy, Bruce-Tagoe Alexander, Konotey-Ahulu FID. The Third International Conference On The Achievements of Sickle Cell Disease (ACHEACHE) Patients, Accra – 19th July 2010. Accra, Adeko Limited. ISBN: 978-1-3927-8. [International Conference Centre – 22 pages]
12 Weatherall DJ. Ethical issues and related problems arising from the application of the new genetics to clinical practice Chapter 12 in The New Genetics and Clinical Practice D J Weatherall, Oxford , Oxford University Press, Third Edition 1991, page 362.
Competing interests: None declared

Antenatal sickle cell disease haemoglobinopathy screening

Responding to

Antenatal haemoglobinopathy screening
by Judy Shakespeare
BMJ 341:doi:10.1136/bmj.c5243 (Published 18 October 2010) www.bbj.com

Rapid Response http://www.bmj.com/content/341/bmj.c5243/reply#bmj_el_243447

October 25 2010 by

Felix ID Konotey-Ahulu, Kwegyir Aggrey Distinguished Professor of Human Genetics University of Cape Coast , Ghana  and Consultant Physician Genetic Counsellor in Sickle&Other Haemoglobinopathies 10 Harley St London W1G
The commissioned editorial [Reference 1] of Judy Shakespeare (18 October) is as comprehensive as the article [2] of Elizabeth Dormandy et al whose concerns the editorial underlined. My comments with references [3] on the Elizabeth Dormandy paper are therefore equally applicable to both articles, and will not largely be repeated here. But there are a couple of clarifications which readers would like to see made.  

CLARIFICATIONS NEEDED

What does the following mean? “Antenatal screening for sickle cell disease and thalassaemia is just the tip of a genetic iceberg and primary care needs to be prepared.” [1]. How can screening be the tip of an iceberg?
Nor is the following easily comprehensible: “In the United Kingdom , about 250,000 people are healthy carriers of sickle cell gene variants and 12,500 have the disease ..”

 What are healthy carriers of sickle cell gene variants? Does the author mean beta-globin gene variants? If as Judy Anderson states, her fellow general practitioners need to “raise their awareness and skills” to educate their patients are they likely to understand what “sickle cell gene variant carrier” means?

GHANAIAN BASIC TERMINOLOGY ACCEPTABLE TO EVEN ILLITERATES

Will UK General Practitioners countenance the terminology I use to instruct Ghanaian illiterates and fellow health staff with the message of sickle cell disease inheritance? For decades I have told them that all Ghanaians are divided into 3 broad phenotypes, using my own parents and their children [Reference 4] as examples: (i) ACHEACHE (those who have inherited an ACHE gene from both parents and therefore ache in the cold rainy season with sickle cell disease, like 3 of my parents’ 11 children) (ii) NORMNORM (no cold season rheumatism, like 4 of my parents’ children, having inherited no abnormal haemobglobin, and blood test shows no beta globin variant) (iii) NORMACHE (no cold season rheumatism, like the other healthy 4 of us but blood test shows one beta globin variant trait, like our parents). Every new patient of mine for several decades now has had Haemoglobin Electrophoresis done, confirming that 1 in 3 of West Africans is NORMACHE ie a Trait. In my experience, the assumption that identified NORMACHE x NORMACHE marriages will be queuing up to have prenatal diagnosis and selective abortion done when offered it is too presumptuous for the reasons already given in my earlier comments [Reference 3]. Many prefer genetic gambling, then stopping procreation after 1 or 2 children if they happen to avoid ACHEACHE phenotype. If a sickle cell disease offspring arrives, they do not panic because they know many adult ACHEACHE Achievers. [3]

SICKLE CELL DISEASE HAEMOGLOBINOPATHY IS DIFFERENT

 
Sickle cell anaemia, a qualitative molecular pathology ‘SS phenotype’, and beta thalassaemia major a quantitative molecular pathology are both, as Judy Shakespeare correctly points out [1] homozygous recessive, but their public health handling must be entirely different [Reference 3]. No where in the world is beta-thalassaemia minor, the heterozygote, 33.3% of the healthy population, whereas if one phenotypes West Africans anywhere in the world well above 35% of us will be NORMACHE, ie traits of abnormal haemoglobins (AC or AS), and we do not know it until we are investigated by Hb electrophoresis. Helping Ghanaians and Nigerians to make informed decisions in procreation does not lie in prenatal diagnosis and selective abortion as appears to be the case in Cyprus , but does lie in Genetic Counselling with Voluntary Family Size Limitation. [References 4 & 5]. And, take it from me, that works!

Felix I D Konotey-Ahulu MD(Lond) FRCP DTMH ORDER OF THE VOLTA ( GHANA )
Dr Kwegyir Aggrey Distinguished Professor of Human Genetics University of Cape Coast , Ghana and Consultant Physician Genetic Counsellor in Sickle and Other Haemoglobinopathies. [felix@konotey-ahulu.com]

 
Conflict of interest: My parents who were traits for abnormal haemoglobins, had 11children 3 of whom had sickle cell disease, 4 are traits and 4 have no beta globin gene variant.

1 Shakespeare Judy. Antenatal haemoglobinopathy screening. BMJ 2010; 341: c5243 (Editorial 18 October)

2 Dormandy Elizabeth, Gulliford Martin, Bryan Stirling, Roberts Tracy E, Calnan Michael, Atkin Karl, Karnon Jonathan, Logan Jane, Kavalier Fred, Harris Hilary J, Johnston TraceyA, Anionwu Elizabeth N, Tsianakas Vicki, Jones Patricia, Marteau Theresa M. Effectiveness of earlier antenatal screening for sickle cell disease and thalassaemia in primary care: cluster randomised trial. BMJ 341:doi:10.1136/bmj.c5132 (5 October 2010)

3 Konotey-Ahulu FID. Antenatal screening for sickle cell disease and beta-thalassaemia. http://www.bmj.com/content/341/bmj.c5132/reply#bmj_el_242914 BMJ Rapid response. 12 October 2010

4 Konotey-Ahulu FID. Sickle cell disease in successive Ghanaian generations for 3 Centuries. http://www.konotey-ahulu.com/images/generation.jpg 

In The Human Genome Diversity Project: Cogitations of An African Native. Politics and the Life Sciences (PLS) 1999, Vol 18: No 2, pp 317-322. [Invited Commentary on Professor David Resnik’s article: The Human Genome Diversity Project: Ethical Problems and Solutions] PMID: 12561789 [PubMed – indexed for MEDLINE]

5 Konotey-Ahulu FID. Sickle Cell Disease: The Case for Family Planning. Accra . ASTAB Books, Ltd 1973

Competing interests: My parents who were traits for abnormal haemoglobins, had 11 children 3 of whom had sickle cell disease, 4 are traits and 4 have no beta globin gene variant.

The politics (and economics) of pain relief in the West and Third World

Feature: Pain control : The politics of pain
• Tatum Anderson
BMJ 341:doi:10.1136/bmj.c3800 (Published 11 August 2010) – www.bmj.com

The politics (and economics) of pain relief in the West and Third World
o Felix ID Konotey-Ahulu, Kwegyir Aggrey Distinguished Professor of Human Genetics University of Cape Coast Ghana
Consultant Physician Genetic Counsellor in Sickle/Other Haemoglobinopathies 10 Harley St London W1G
The politics (and economics) of pain relief in the West and Third World
Tatum Anderson (14 Aug, p 328) wished pain relievers elsewhere could imitate the “Western world” [1]. His concern needs to be put into perspective. Referring to Armenia he quotes Dr Karfeptyan as saying “Finances remain a problem” [1]. Yes, Health Ministers decide which imported drugs have priority over others.

WHO RECOMMENDATIONS
Tatum Anderson mentions WHO recommendations on pain relief, but WHO
More…
The politics (and economics) of pain relief in the West and Third World
Tatum Anderson (14 Aug, p 328) wished pain relievers elsewhere could imitate the “Western world” [1]. His concern needs to be put into perspective. Referring to Armenia he quotes Dr Karfeptyan as saying “Finances remain a problem” [1]. Yes, Health Ministers decide which imported drugs have priority over others.

WHO RECOMMENDATIONS
Tatum Anderson mentions WHO recommendations on pain relief, but WHO guidelines are not accompanied by money. Useful on paper, they can nevertheless be ignored. Exactly 38 years ago WHO convened some of us to produce an 83-page Technical Report on how to tackle the problem of Sickle Cell Disease. [2]. It was ignored. .
But WHO makes other recommendations which do not rely on foreign aid. WHO knows Traditional Medicine which costs a fraction of what imported drugs cost is widely used [3 4], and aims to “support and integrate traditional medicine into national health systems” [4]. True, some Africans cannot afford imported opiates but “85% of Nigerians use and consult traditional medicine for health care” [5]. Indeed, the pain of my own circumcision when a little boy was managed by a Krobo traditional healer who also “knew about haemostasis” [6]. Neither the ground haemostatic herbs nor the pain killing tincture came from abroad. Did the oral morphine that the Ugandans in Tatum Anderson’s article were using come from abroad, or did they get it from their traditional healers as WHO would have approved of?

WESTERN NATIONAL INTERESTS FIRST BEFORE ANYTHING ELSE
Tatum Anderson writes as if “The Western world” speaks with one voice. Take his comment: “Also, many patients with conditions, such as sickle cell anaemia, …require relief but do not get it” [1] The UK uses Diamorphine for sickle cell crisis patients [7 8], while “heroin has no accepted use in the United States” [9, page 168]. Do these two countries not belong to “The West” and yet do they not differ in their use of this particular opiate? That national interests have more to do with choice of drugs in their Pharmacopoeia is shown by UK’s reaction to Professor Elisabeth Goodman’s finding in the USA [10] that the use in painful crises of Ketorolac was as efficient as morphine but without the latter’s respiratory depression: “Ketorolac has no product licence in the UK for this indication” [11]. Professor Graham Serjeant has stated: “In Jamaican experience morphia or its derivatives are rarely used or necessary” [12, page 204]. I agree [3].

GHANAIAN SICKLE CELL DISEASE ACHIEVERS
On 19 July 2010 The Third International Conference On The Achievements of Sickle Cell Disease Patients [14] was held in Accra, followed on 20-23 July by The First Global Congress On Sickle Cell Disease to mark the 100th anniversary of the first clinical description of Sickle Cell Disease. The Conference had sickle cell anaemia adults in their 7th decade tell us how they managed to achieve great things [14 15]. One known “SS” man with a PhD, who had never in his 63 years been transfused though Hb level was never above 8.8 g/dL and who had never been prescribed Hydroxyurea, astonished delegates when he announced “I do not know when I last took a pain killer for my sickle cell anaemia. Drink plenty of water, avoid malaria, and have a positive attitude to life” [14, page 15].

NATIONAL ENQUIRY INTO PATIENTS OUTCOME AND DEATH (NCEPOD)
The NCEPOD report [7 8] concludes that during 2 years “Nine out of the 19 patients with sickle cell disease who had pain on admission and who then died had been given excessive doses of opiods” [8], and this continues to happen [16 17] in spite of UK’s National Institute of Clinical Excellence (NICE) [18 19]. Is post narcotic administration death (pnad) the kind of relief that Tatum Anderson’s “West” is seeking for our patients, many of whom have become bread winners when their hereditary condition is managed properly? [20 21]

WHAT THE THIRD WORLD CAN AND MUST LEARN FROM THE WEST
There is plenty though The Third World can learn from the West, not least of which is ‘Discipline’ in personal and national affairs. We must learn that every privilege demands some responsibility. Why should it be implied [1] that Bill and Melinda Gates could supply us with free morphine? Why should we Africans expect help to come from outside when we refused to learn lessons like Singapore had done?
Next, we Africans need discipline against corruption. I described how a Lebanese, an Italian, plus a Ghanaian conspired and supplied the Ministry of Health in Accra with Ampicillin capsules stuffed with chalk and cassava powder as “500 mg Ampicillin” [22]. The then Commissioner of Health to whom I reported this, and who began to probe the racket was promptly removed from his post [22]. True, the Italian crook came from the “West” but, generally speaking, “The West” is ready to show us the proper means and ways to deal with situations like that [22]. Our envy of “The West” knows no bounds when we read of their ability to prosecute a French President, discipline a German Chancellor, investigate an Israeli Prime Minister, dismiss a Japanese Minister, and remove a sitting American President for “simply lying”. Twice in less than 3 years the BMJ has published articles on pain relief for Africans [1 23]. Can we also have articles showing how “The West” could help us prevent a Minister of Health from being removed for probing crooks in the pharmaceutical industry, and how we should not expect Bill and Melinda Gates to give us free antimalarial drugs when we have not covered open drains in our cities like Singapore and Trinidad have done? [24].
Felix I D Konotey-Ahulu MD(Lond) FRCP DTMH Dr Kwegyir Aggrey Distinguished Professor of Human Genetics University of Cape Coast, Ghana and Consultant Physician Genetic Counsellor in Sickle and Other Haemoglobinopathies, 10 Harley Street, London W1G 9PF felix@konotey-ahulu.com

1 Anderson Tatum. The politics of pain. Brit Med J 2010; 341: c3800 http:// www.bmj.com/cgi/content/full/341/aug11_2/c3800
2 Boyo AE, Cabannes R, Conley CL, Lehmann H, Luzzatto L, Milner PF, Ringelhann B, Weatherall DJ, Barrai I, Konotey-Ahulu FID, Motulsky AG. Scientific Group on Treatment of Haemoglobinopathies and Allied Disorders. (Technical Report) 1972; 509 – 83 pages.
3 WHO. Traditional Medicine Strategy 2002-2005. Geneva: WHO 2002
4 WHO. Traditional Medicine. Fact Sheet No; 134. http://www.who.int/mediacentre/factsheets/fs134;en
5 Adelaja Abiose. Nigeria boosts research into traditional medicine. Sci Dev Net Dec 6 2006 http://www.scidev.net/en/news/nigeria- boosts-research-into-traditional-medicine.html
6 Konotey-Ahulu FID. Male circumcision and alleged protection against AIDS. http://www.bmj.com/cgi/eletters/335/7631/1206# BMJ 11 Dec 2007 Rapid Response
7 NCEPOD (National Confidential Enquiry into Patient Outcome and Death). Sickle: A Sickle Crisis? (2008) [Sebastian Lucas (Clinical Co- ordinator), David Mason (Clinical Co-ordinator), M Mason (Chief Executive), D Weyman (Research), Tom Treasurer (Chairman) info@ncepod.org
8 Mayor Susan. Enquiry shows poor care for patients with sickle cell disease. BMJ 2008; 336: 1152.
9 Ballas S K. Sickle Cell Pain. IASP Press. Seattle, USA.
10 Goodman Elisabeth. Use of ketorolac in sickle cell disease and vaso-occlusive crisis. Lancet 1991; 338: 641-42.
11 Liesner RJ, Vandenberghe EA, Davies SC. Analgesics in sickle cell disease. Lancet 1993; 341: 188.
12 Serjeant GR. Sickle Cell Disease. Oxford. Oxford University Press, 1985, page 204.
13 Konotey-Ahulu FID. Morphine for painful crises in sickle cell disease. BMJ 1991; 302: 1604.
14 Amanor-Boadu Dorothy, Bruce-Tagoe Alexander, Konotey-Ahulu Felix. The Third International Conference On The Achievements Of Sickle Cell Disease (ACHEACHE) Patients. Accra – 19th July 2010. Adeko Ltd, Accra, Ghana. ISBN: 978-9988-1-3927-8.
15 The Second International Conference On The Achievements Of Sickle Cell Disease Patients, Accra 19th July 1995.
16 Dyer Clare. Inquest begins into deaths after concerns about diamorphine levels. BMJ 2009; 338: b903 [7 March]
17 Konotey-Ahulu FID. Inquest into diamorphine deaths; Does NCEPOD sickle cell patients report warrant a similar inquest? BMJ Rapid response 7 March 2010. http://www.bmj.com/cgi/eletters/338/mar03_3/b903#210208
18 Konotey-Ahulu FID. Poor care for sickle cell disease patients: This wake up call is overdue. http://www.bmj.com/cgi/elettres/336/7654/1152-a#196224 BMJ Rapid response 29 May 2008.
19 Konotey-Ahulu FID. Current “hit and miss” care provision for sickle cell disease patients in the UK. BMJ Rapid Response 22 July 2008 http://www.bmj.com/cgi/eletters/337/jul11_2/a771#199135
20 Serjeant GR. The case for dedicated sickle cell centres. BMJ 2007; 334: 477 (3 March)
21 Konotey-Ahulu FID. Dedicated sickle cell centres. BMJ Rapid response March 20 http://www.bmj.com/cgi/eletters/334/7591/477#162678
22 Konotey-Ahulu FID. Who should best pharmacovigilate in developing countries? 14 September 2007 BMJ Rapid Response to Editorial http://www.bmj.com/cgi/eletters/335/7618/462#167455
23 Logie Dorothy, Leng Mhoira. Africans die in pain because of fears of opiate addiction. BMJ 2007; 335: 685 http://www.bmj.com/cgi/content/full/335/7622/685 October 6 2007.
24 Konotey-Ahulu FID. Fighting Malaria: Isn’t the best approach through Environmental Hygiene and Public Health? BMJ Rapid Response April 26 2009 http://www.bmj.com/cgi/eletters/338/apr20_2/b1627#212782
Competing interests: None declared

Third International Conference on the Achievements of Sickle Cell Disease Patients

The Third International Conference on the Achievements of Sickle Cell Disease Patients will take place at the Accra International Conference Centre on Monday 19th July, the day before the First World Congress On Sickle Cell Disease begins at the same venue. Attendance is free. Contact Co-Chairs Ms Dorothy Amanor-Boadu (elitens@yahoo.co.uk), Professor Alex Bruce-Tagoe (alexbt_2000@yahoo.com) and Professor Felix Konotey-Ahulu (felix@konotey-ahulu.com), and also the Local Chair for the World Congress Dr Ivy Ekem (ekem_ivy@hotmail.com)

TONIC SOLFA IS THE FOUNDATION OF TONAL LINGUISTICS: University of Cape Coast 40th Congregation Occasional Lecture Series, Ghana 12 October 2009

My Mother Tongue, Krobo/Dangme-Gã of south-east Ghana was first written by the Swiss-German Basel Missionaries who not only translated the Bible for us, but also wrote hymns for us with the help of local experts born in the Gold Coast. They did a remarkable job, but as the Ghanaian vowel imparts no less than 6 meanings to any consonant my parents and grandparents had to look at the context in which a written word appeared before pronouncing the word correctly. For example, the word written ‘ta’ can mean chew, war, giant ant, to fish out of a bowl, palm tree, or narrate in Krobo/Dangme. My parents were adept at quickly scanning a sentence mentally before deciding what the ‘ta’ they had just read stood for.
To read more click here to view the PDF document.

Origin of the Genetic Code is suprascientific

Origin of the Genetic Code is suprascientific
http://jrsm.rsmjournals.com.newproxy.rsm.ac.uk/cgi/eletters/103/2/43 Journal of Royal Society of Medicine March 15 2010
Response: The disappointments of the double helix: a master theory
Origin of the genetic code is suprascientific
The title of Dr James Le Fanu’s magnificent article suggests inadvertently that, with all the advances in genomic research, our inability to have “a mind capable of understanding the origins of the universe” [1] is to be blamed on the double helix when he could justifiably have pointed his finger at ourselves.
Discoverer of the ‘Double Helix’, Nobel Laureate Francis Crick, confessed his inability to explain “the origin of the genetic code” [2]. I discovered the reason why from Professor Sir Peter Medawar FRS OM, another Nobel Laureate, who taught that questions like origins not only go “beyond the explanatory confidence of science” [3 (p. xiii)] but also that “science cannot answer these ultimate questions and no conceivable advance of science could empower it to do so” [3 (p. 59)].
It is beginning to dawn on some of the world’s brightest scientists that Medawar is quite right, and that DNA, with its genetic code, belongs to the lowest rung (statistics) of information-transmission whose other rungs, in ascending order, capable of sending a message and producing results are syntax, semantics, pragmatics, and apobetics [4]. Useful messages do not arise anyhow. The first question I ask when I receive useful information is not “How was this information sent?” but “Who sent this?”
Until we begin to accept Medawar’s humbling limitation of the “explanatory confidence of science” [3] and admit that the origin of the universe and of DNA information programming in particular, is in the realm of the “suprascientific” [5] we shall continue (as we do at present) to be “whistling in the dark to keep our scientific courage up” [5].
Felix ID Konotey-Ahulu, Kwegyir Aggrey Distinguished Professor of Human Genetics, University of Cape Coast, Ghana and Consultant
Physician Genetic Counsellor, Sickle & Other Haemoglobinopathies 10 Harley St., London W1G 9PF
E-mail: felix@konotey-ahulu.com
Competing interests: None declared
References
1 Le Fanu J. The disappointments of the double helix: a master theory. J R Soc Med 2010; 103: 43-45. DOI.101258/jrsm.2009.09k077 February 2010
2 Crick FHC. The origin of the genetic code. J Mol. Biology 1968: 38: 367-379.
3 Medawar P. The Limits of Science. Oxford. Oxford University Press, 1985 pp xiii & 59.
4 Gitt Werner. In the beginning was Information. Christliche Literatur-Verbretung e.V.
Postfach 110135.33661 Bielefeld, Germany, 2001.
5 Konotey-Ahulu FID. The suprascientific in clinical medicine – a challenge for
Professor Know-All http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1121901
Brit Med J. 2001; 323: 1452-1453

Are patients with G6PD Deficiency to avoid eating prawns?

Are patients with G6PD Deficiency to avoid eating prawns that have been farmed?
In his very informative editorial (March 4) Geoff Scott says “Chloramphenicol is also used in certain practices in agriculture, such as the farming of prawns” [Reference 1]. Should I, therefore, mention to my Ghanaian patients one in five males (hemizygotes) of whom were born with G6PD Deficiency [References 2-4] that eating prawns that have been farmed could lead to what Geoff Scott calls “dangers of unwanted effects” [Reference 1]?
That would increase my list [See Reference 5] from 20 to 21 of how to recognize effects of Glucose-6 Phosphate Dehydrogenase deficiency in Ghanaian hemizygotes, female heterozygotes, and the homozygotes that constitute 1 in 16 of all females at home in Ghana and in the diaspora [2].
Felix ID Konotey-Ahulu MD FRCP DTMH
Kwegryir Aggrey Disitnguished Professor of Human Genetics, University of Cape Coast, Ghana and
Consultant Physician Genetic Counsellor in Sickle and other Haemoglobinopathies, 10 Harley Street, London W1G 9PF
Email: felix@konotey-ahulu.com
Conflict of interest: None declared
1 Scott Geoff. Over the counter chloramphenicol eye drops. BMJ 2010; 340 c1016
http://www.bmj.com/cgi/content/full/340/feb26_1/c1016
2 Owusu SK. Absence of glucose-6 phosphate dehydrogenase in red cells of an African. BMJ 1972; 4: 25-26
3 Owusu SK, Foli AK, Konotey-Ahulu FID, Janosi Marianne. Frequency of glucose-6 phosphate dehydrogenase deficiency in typhoid fever in Ghana. Lancet 1972; 1: 320
4 Owusu SK. Glucose-6 phosphate dehydrogenase (G6PD) deficiency in causation of disease in Ghana. Ghana Medical Journal 1974; 13: 168-170
5 Konotey-Ahulu FID. G-6PD Deficiency in Ghanaians: How to recognize it. http://blog.konotey- ahulu.com/blog/_archives/2008/1/16/3468557.html Jan 2008.
Competing interests: None declared

Sickle Cell Disease Patients dying from Opiates: Why no co-operation among doctors?

I am very concerned at what appears to be inadequate cooperation among medical practitioners who I had always assumed worked in harmony to improve the quality of patients' lives and save lives that can be saved.

If I have understood correctly, in the first few years of training, medical practitioners learn that opiates, notably morphine and heroin (Diamorphine) have an effect on the cerebellum and deprive the system of oxygen. It is therefore advised that as there are numerous alternatives available, they should absolutely not be used as a pain killer unless a patient is terminally ill, very near to death and in excruciating pain which no other pain killer can relieve.

Do I understood that those physicians who continue to prescribe these drugs have forgotten what they have been taught or choose to ignore the fact even when reminded? What is happening to the life-saving dictum of the profession where some doctors are concerned?

In November 2008, I went to an emergency room at a clinic in Geneva , Switzerland where I live, with a blasting chest pain. My condition was soon further complicated by excruciating pain in my left hip.

My new lease on life is because medical practitioners did not contest my refusal of a morphine injection to relieve excruciating pain in my chest and hip. The physicians attending to me would have loved to relieve me of the pain with morphine but respected the knowledge, however little, and understanding I had of the way in which opiates affect the brain and therefore the entire system. They deprive the system of oxygen which is desperately vital in my condition, Sickle Cell Disease.

I had double pneumonia and pleurisy. The infection had provoked a sickle cell crisis. Before they had realised the extent of my illness, the fact that I was a sickle cell disease (SC) patient was enough for the physicians attending me NOT to insist on administering morphine. One of them said that my pain had reached the maximum the human body could endure.

Unfortunately, some physicians force patients to have morphine. Whether one is a sickle cell patient or not, opiates in my opinion, are not to be recommended.

I am allergic to aspirin and therefore must avoid no fewer than 34 prescription and over-the-counter medications, including Ketorolac (Toradol) which is very effective in relieving excruciating pain.

There are so many misconceptions about sickle cell disease that I took the book “The Sickle Cell Disease Patient” by F I D Konotey-Ahulu to the clinic and my daughter handed it to the physician attending to me. My three adult children are well informed about my health issues and therefore telephoned Professor Felix Konotey-Ahulu abroad for guidance. My physicians were very happy to consult with him by telephone. He confirmed that I was right to refuse the administration of morphine and together they co-operated in making me comfortable and well again.

I was fortunate enough not to need a blood transfusion (neither total nor partial).

It may help medical practitioners to know that over the 12-days that I was in the clinic in Geneva, medication I was given was Dafalgan, Valium, Tramal, Perfalgan, Rocephine, Klacid, Franxiperine, Nexium and Tavanic and Motilium lingual. I also had Oxygen, NaCl and Glucose. No Morphine or Diamorphine!

On leaving the clinic in Geneva , I went to a convalescence clinic. A physician at the convalescence clinic asked why I had refused morphine. When I explained why, a colleague of his pointed to the back of his head, reminding him of the effect opiates have on the brain.

I am privileged to interact with physicians for whom I have the highest respect, one reason being because they take due consideration of what I, their patient, say and they listen to my children as well. The physicians are humble enough to take hold of a receiver and cooperate with another physician abroad in saving a life. They admit to me that they have been very happy to deepen their knowledge and would be pleased to learn more.

Had I been given the morphine or any other opiate, because of my double pneumonia with sickle cell disease, I would not be writing today, pleading with physicians to have compassion on patients who sometimes suffer very uncomfortable psychological problems (however temporary) as a result of having been given opiates and those who die as a result of having been given opiates.

The physicians who seem not to understand should try putting themselves in the position of families plunged into unbearable grief because of carelessness – a loved one was given opiates unnecessarily.

In spite of myself I begin to wonder whether Professor Felix Konotey- Ahulu's very practical and uncomplicated life-saving advice is being ignored by some medical practitioners because of his African origins. I believe his advice is based on what every medical practitioner learns at medical school.

Mawunu Chapman Nyaho
Geneva

Competing interests: None declared

Source : http://www.bmj.com/cgi/eletters/339/sep01_1/b3536#220670

UK drug related deaths are still rising: So where is NICE?

http://www.bmj.com/cgi/eletters/339/sep01_1/b3536#219836

Susan Mayor, 5 September, has done well to draw attention to 2 reports that reveal “the numbers of people dying because of poisoning from legal and illegal drugs are still increasing” [1] The first report said “Almost a third of the deaths where specific drugs were mentioned on the death certificate were related to heroin or morphine” [1, 2] The second report from St George’s University of London showed a 2.7% rise in the number of drug related deaths confirmed by inquest. Here too “Heroin and morphine accounted for most of these deaths” [3]. And these were the very drugs that the NCEPOD Report [4] found had produced deaths in sickle cell disease patients from overdose, and about which I continued to protest [5- 8].

HOW LONG WILL THIS CONTINUE FOR?

How long this situation is destined to continue is not clear. Writing to the Prime Minister and Health Ministers as I did, produced a response from Downing Street [6], but other ministers did not even bother to acknowledge my letters of concern. The United States of America has banned Diamorphine (Heroin) from all clinical practice [9], and that great country does not even have a National Institute of Health and Clinical Excellence (NICE). I would dearly want to know what percentage of the members of NICE are practicing Clinicians. Do they not know that Diamorphine suppresses respiration thus producing more in vivo sickling in sickle cell crisis [10, 11, 12]? Never mind how many UK Professors of Haematology approve of the practice, but do the Clinicians on NICE not know that it is this “legal” Diamorphine that (as Susan Mayor writes) is pushing up “the numbers of people dying because of poisoning from legal and illegal drugs” [1]?

IS MY PROTEST JUSTIFIED OR NOT?

But why do I continue protesting like this? ANSWER: First of all, I did not train in the bush somewhere in Africa. I was trained in London University’s Westminster Hospital School of Medicine by Physicians and Surgeons of King George VI and Queen Elisabeth II. My teachers taught me never to give Diamorphine or morphine to someone who could not breathe and whose red cells were bound to sickle further and clog up vital organs [13]. Secondly, I was second born of my parents’ 11 children 3 of whom had sickle cell disease, allowing me to know much about the disease before I went to university [14]. Thirdly, I was once in charge of the largest sickle cell disease clinic in the world, seeing personally hundreds of patients in sickle cell crisis [15, 16], salvaging many to grow up to use their brilliant non-sickling genes to achieve great things later in life, an experience which led me to begin writing about the sickle cell disease patient more than 44 years ago [17].

MY ADVICE TO NATIONAL INSTITUTE OF HEALTH AND CLINICAL EXCELLENCE

In the light of the above I make no apologies to take it upon myself to advise NICE to stop standing on the sidelines, and add to their many pronouncements one that forbids the “legal” use of Heroin (Diamorphine) for sickle cell disease patients. This, at least, was one thing NICE could learn from the USA [9].

GENETIC COUNSELLING AND VOLUNTARY FAMILY SIZE LIMITATION

The real answer for now, and the future, as I have been saying for decades is Genetic Counselling and Family Planning [18, 19] warning my fellow Africans that if they did not check themselves for a beta-globin gene variant (an ACHE gene) they might suddenly find themselves with a child born with an ACHEACHE phenotype (ACHE from father and ACHE from mother), like Sickle Cell Disease, and “the genetic burden on the National Health Service will go up and up” [20]. If born in the UK, the child could never escape Diamorphine treatment in sickle cell crisis. Was that really a prospect my country men and women would cherish?

Felix I D Konotey-Ahulu MD(Lond) FRCP DTMH Dr Kwegyir Aggrey Distinguished Professor of Human Genetics, University of Cape Coast, Ghana and Consultant Physician Genetic Counsellor in Sickle & Other Haemoglobinopathies, 10 Harley Street London W1G 9PF.

felix@konotey-ahulu.com

1 Mayor Susan. UK drug related deaths are still rising say two reports. http://www.bmj.com/cgi/content/full/339/sep01_1/b3536 BMJ 2009; 339: b3536

2 Deaths related to drug poisoning www.statistics.gov.uk/pdfdir/dgdths0809.pdf August 2009.

3 The St George’s Annual Report August 2009 www.sgul.ac.uk/about-st-georges/divisions/faculty-of-medicine-and- biomedical-sciences/mental-health/icdp/our-work-programmes/nationa/- programme-on-substance-abuse-deaths

4 NCEPOD (National Confidential Enquiry into Patient Outcome and Death). SICKLE: A Sickle Crisis? (2008) [Sebastian Lucas (Clinical Co- ordinator), David Mason (Clinical Co-ordinator), M. Mason (Chief Executive), D Weyman (Research), Tom Treasurer (Chairman)] info@ncepod.org

5 Konotey-Ahulu FID. Poor care for sickle cell disease patients: This wake up call is overdue BMJ Rapid Response May 28 2008 BMJ 2008; 336: 1152 http://www.bmj.com/cgi/eletters/336/7654/1152a#196224 to Susan Mayor “Enquiry shows poor care for patients with sickle cell disease” on National Confidential Enquiry into Patient Outcome and Death (NCEPOD) REPORT “SICKLE: A Sickle Crisis? (2008) info@ncepod.org

6 Konotey-Ahulu FID. Current “hit and miss” care provision for sickle cell disease patients in the UK. http://www.bmj.com/cgi/eletters/337/jul11_2/a771#199135 BMJ Rapid Response 22 July 2008

7 Konotey-Ahulu FID. Management of sickle cell disease versus management of the sickle cell disease patient. http://www.bmj.com/cgi/elettrs/337/sep08_1/a1397#202088 BMJ Rapid Response 17 September 2008

8 Konotey-Ahulu FID. Inquest into diamorphine deaths: Does NCEPOD sickle patients report warrant a similar inquest? BMJ Rapid Response March 7 2009 http://www.bmj.com/cgi/eletters/338/mar03_3/b903#210208

9 Ballas SK. Sickle Cell Pain. IASP Press. Seattle 1998.

10 . Konotey-Ahulu, FID. Morphine for painful crises in sickle cell disease. BMJ 1991, 302(6792): 1604. (June 29 1991) (Comment on Professor Chamberlain's recommendation of morphine in pregnancy in sickle cell disease – BMJ 1991; 302: 1327-30.) doi:10.1136/bmj.302.6792.1604-c http://www.bmj.com/cgi/reprint/302/6792/1604-c.pdf PMID: 1855060 PubMed- indexed for MEDLINE

11 Konotey-Ahulu FID. Opiates for sickle-cell crisis? Lancet 1998; 351(9113): 1438. May 9. PMID: 9593444 PubMed-indexed for MEDLINE

12 Konotey-Ahulu FID. Opiates for sickle-cell crisis. Lancet 1998; 352(9128): 651-652. Aug 22. PMID:9746049 PubMed-indexed to MEDLINE

13 Konotey-Ahulu FID. Opiates for pain in dying patients and in those with sickle cell disease. 11 October 2007 BMJ Rapid Response http://www.bmj.com/cgi/eletters/335/7622/685#177986

14 Konotey-Ahulu FID. Sickle Cell Disease in successive Ghanaian generations for three centuries (Manya Krobo Tribe) In The Human Genome Diversity Project: Cogitations of An African Native. Politics and the Life Sciences (PLS) 1999, Vol 18: No 2, pp 317-322. http://www.konotey- ahulu.com/images.generation.jpg

15 Konotey-Ahulu FID. The Sickle-cell Diseases: Clinical manifestations including the Sickle Crisis. Arch Inten Med 1974; 133(4): 611-619. http://archinte.ama.assn.org/cgi/reprint/133/4/611-pdf or http://archinte.ama.assn.org/cgi/content/abstract/133/4/611 [PMID: 4818434 PubMed – indexed for MEDLINE]

16 Konotey-Ahulu FID. The sickle cell disease patient: natural history from a clinico-epidemiological study of the first 1550 patients of Korle Bu Hospital Sickle Cell Clinic. Watford Tetteh-A’Domeno Company 1996 & The Macmillan Press Ltd, London 1991/1992.

17 Konotey-Ahulu FID. Publications annually from 1965 to 2009 http://www.konotey-ahulu.com/publications_annual.htm

18 Konotey-Ahulu FID. Sickle Cell Disease: The Case for Family Planning. Accra. ASTAB Books, Ltd 1973; 32 pages.

19 Ringelhann B, Konotey-Ahulu FID. Hemoglobinopathies and thalassemias in Mediterranean areas and in West Africa: Historical and other perspectives 1910 to 1997 – A Century Review. Atti dell’Accademia dell Science di Ferrara ( Milan) 1998; 74: 267-307.

20 Konotey-Ahulu FID. Need for ethnic experts to tackle genetic public health. http://www.thelancet.com/journals/lancet/article/PIIS0140- 6736(07)61771-1/fultext Lancet 2007; 370: 1836 [doi:10.1016/50140- 6736(07)61771-1]

Competing interests: None declared.

Sickle Cell Disease Patients dying from Opiates: Why no co-operation among doctors? Mawunu Chapman Nyaho

http://www.bmj.com/cgi/eletters/339/sep01_1/b3536#220670 British Medical Journal 21 September 2009