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Work in Sri Lanka (Part 2)


Work in Sri Lanka (Part 1)
David Weatherall Scientist
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I suppose one’s regrets in this field have been partly that so far, in, in, we know so much about the kind of molecular genetics of the thalassemias for example, and over the kind of, last ten years that I was working in the field, we started to gain, I think quite better insights really, into the extraordinary number of phenotypes that can be under the heading of just one simple monogenic disease. The- we had, that had been an interest of ours, of course, right through, but once the DNA era broke, it was at least possible to confirm some of those previous impressions, and as I’ve been working, started to work about ten years ago in Sri Lanka, I think I really started to get a feel for the extraordinary phenotypic diversity which, and realised that the literature in our field probably a little bit missing on that. What actually happened, was when I went to Sri Lanka it was initially for a lecture, and the paediatricians asked me to go up to this place called Kurunegala where the, the, they have the bulk of the thalasemic patients in Sri Lanka. I reckon there’s probably about 3,000 affected children in Sri Lanka and probably about eight or nine hundred of them all in that one centre, so at the time it was not clear what they had, or a kind of thalassemia, but to cut a long story short, I think about a third of them on the island have haemoglobin E thalassemia and of course, this is the commonest form of severe thalassemia in many Asian countries, in Bangladesh it’s the commonest, Thailand it’s by far the commonest. I think the Thai’s are reckoning they’re having about 3,000 new cases born in Thailand of that each year, and we found roughly, not quite so many, but it’s certainly a very high proportion of the bad thalassemias in Indonesia. And it’s a funny disease, because the spectrum goes from ghastly disease, which is totally transfusion dependent, to something that is very, haemo phenotypically very mild. And I was struck by this when I first went to this clinic in Kurunegala, that here were kids on transfusion, but, you know, I was seeing 45 year old farmers who’ve never been near a hospital, I mean, until this wretched man came from Oxford and started studying their family. Who was living at a haemoglobin of about 7 grams, but you know, a perfectly normal life, normal development, normal fertility. So, I started to watch these children, really study them a little bit more carefully. It meant going to Sri Lanka at least four times a year and doing the things with your own hands, I never kind of, I don’t think people know how to measure spleens properly, so what you read in notes is absolute rubbish, usually, so, I mean, I may get it wrong, but if it do it myself every time, it’s wrong, it’s a consistent error, but it’s stuff like that, and measuring growth and growth velocity and all the things paediatricians do. And when I, struck me, was the instability of the phenotypes. You couldn’t just go in there and say somebody’s got mild disease and somebody’s got severe disease, after a short period of observation.

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: 4 minutes, 4 seconds

Date story recorded: July 2007

Date story went live: 02 June 2008