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The Department of Medicine at Oxford


Prenatal diagnosis of thalassemia
David Weatherall Scientist
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I’ve never been awfully happy about prenatal diagnosis, as you remember, we talked a bit earlier about our early entrées into prenatal diagnoses and of course moved into the DNA era very much, and with John Old set up in Oxford a kind of DNA centre for the government, which has now been taken over by others of course, but we trained people from all over the world in that technology, and there’s been a lot of interest, it’s been slow in Asia, of course, both in the Islamic and in the Buddhist countries. Much to my amazement of course, it’s taken off in a big way in the Middle East, in the Islamic populations. Whether that is partly this kind of teaching that the soul doesn’t enter the foetus till about, is it 12 or 14 weeks, and the breathing of the soul, I don’t know what, why it took off, but Buddhism is very interesting, and in Sri Lanka, of course, it’s one of the great homes of the southern Indian Theravada Buddhism, which spread across into Thailand as well, quite different to the north Indian kind of Buddhism which went north into Japan and so on, and Theravada is very vigorous about the value of life, so in Sri Lanka as well as doing a bit of so-called science there, I’ve also been building new treatment centres for them and all that, and trying to develop a control programme. But we don’t talk about prenatal diagnosis, although there’s masses of illegal abortions going on all the time. The abortion is formally, well, it’s not frowned on, it’s disallowed. And what’s happened in Thailand is quite different. The same form of Buddhism, and the Buddhist priests have talked to some of the really fine people in Thailand, like Prawase Wasi, who was one of the fathers of thalassemia, and said look, if you can make a case that this is for the benefit of the mother, and that it’s in your conscience, we will turn a blind eye on this, and the government have not legalised it, but they’ve said the same thing, I think it puts the doctors in a slightly difficult position actually, but, so in Thailand they’ve set up a major prenatal diagnosis programme in Bangkok and up in Chiang Mai in the north. And doing quite a lot of work in India as well, at the moment, and of course there’s a number of centres there. So this question of, if it’s thalassemia major, it’s not difficult, but if it’s E thalassemia or if it’s sickle cell anaemia, where you cannot look the parents in the eye and said, there’s a very strong chance your child will be very debilitated and live on blood, I have a problem as to where prenatal diagnosis should stand. I don’t have a- you should, I mean I’ve been sat on by people like Dr Modell in this country, who believes in, that if a parent wants a perfect child and it’s possible, they should have it, but it does worry me a lot, and with E thalassemia, although we know some of the modifiers and we’re starting to understand the environmental modifiers, I still don’t know, and you see those children and adults, because they don’t make so much foetal haemoglobin as a lot of people with milder forms of thalassemia, their oxygen affinity is higher, and they can cope with a life at seven grams of haemoglobin quite well. Now is it right, or is it not, to stop prenatal diagnosis programmes for E thalassemia, at our present state of knowledge? The Thai’s think it is, I think, as purely very practical people, and, but I think it’s going to be a big problem for Asia, and certainly where, in the stronger Buddhist populations, I see no change of thinking in Sri Lanka, for example. So in Sri Lanka where it’s an education programme, in the hope that people will change their reproductive– they do, they make a lot of reproductive decisions there, by, through the help of the astrologer, so maybe the genotype will be one thing that the astrologers may take on board, I don’t know, when we do the population screening.

British Scientist Sir David Weatherall (1933-2018) was a world renowned expert on blood diseases, in particular thalassaemias, and used his expertise to help control and prevent these diseases in developing countries. He founded the Institute of Molecular Medicine at Oxford in 1989 and was knighted in 1987.

Listeners: Marcus Pembrey

Marcus Pembrey, now Emeritus, was Professor of Paediatric Genetics at the Institute of Child Health, University College London and consultant clinical geneticist at Great Ormond Street Hospital for Children London. He is a visiting Professor at the University of Bristol UK, where he was the Director of Genetics within the Avon Longitudinal Study of Parents and Children until 2006. A past president of the European Society of Human Genetics, he is also the founding Chairman of the Progress Educational Trust.

Duration: 5 minutes, 21 seconds

Date story recorded: July 2007

Date story went live: 02 June 2008