The thalassaemia syndromes / D.J. Weatherall.

  • David Weatherall
Date:
1972
Catalogue details

Licence: Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)

Credit: The thalassaemia syndromes / D.J. Weatherall. Source: Wellcome Collection.

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    286 THE THALASSAEMIA SYNDROMES delivery. It should always be remembered that symptoms and signs suggestive of severe eclampsia occurring in a patient with a sickling disorder, may result from the haemoglobinopathy and be the first indication of severe generalised thromboembolic disease. GENETIC COUNSELLING The incidence of thalassaemia could certainly be reduced if carriers could be persuaded not to marry. It is obviously important to publicise the dangers of thalassaemia in high incidence areas and to offer counselling clinics. Heterozygous ß and S |8-thalassaemia can be easily diagnosed and a precise indication of the risks of pregnancy given to affected individuals. However it is extremely difficult to recognise the a-thalassaemia carrier states. Where a woman has lost one infant with the haemoglobin Bart's hydrops syndrome she probably has a one in four chance of producing similar infants through the same husband. A parent with haemoglobin H disease appears to have a one in four chance of passing it on to the offspring. Clearly carriers must be warned about the dangers of marriage to similarly affected individuals and contraceptive advice or sterilisation offered to couples who have had a thalassaemic child. However where this has been done it does not seem to have been particularly successful and many parents are willing to accept the 75% chance of a healthy child. Unless there is radical change in the mating habits of homo sapiens it does not seem likely that the eugenic approach to the thalassaemia problem will substantially reduce the number of cases in the foreseeable future ! On the other hand the disease is a major public health problem in S,E, Asia and parts of the Middle East and Mediterranean and counselling clinics must be available in these areas, A major difficulty in these areas is that of publicising the fact that such genetic disorders as thalassaemia exist when even the local doctors may be unaware of the fact. The World Health Organisation is currently considering ways of tackling this important problem. So far we have only considered retrospective genetic counselling, i,e, the giving of advice to parents who have already had one abnormal child. It may be possible, if the early intrauterine diagnosis of thalassaemia and the diseases due to the ^S-structural variants can be developed, to offer at-risk couples the opportunity of this type of diagnostic procedure followed by therapeutic abortion. Perhaps the most promising approach for the prevention of these diseases is, however, that of prospective genetic counselling. This means the establishment of population surveys to pick
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