Thalassaemia major with complete suppression of HbA production in a Ghanaian girl.
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Biomedical subjects
Publications and source records attributed to B Ringelhann.
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Iron absorption as measured by a faecal recovery method in young adult males living in a tropical zone was high, even in the absence of anaemia. There was an inverse relation between the iron absorption and the packed cell volume. The highest absorption was found in sickle cell anaemia patients, where the packed cell volume is the lowest. The incorporation of iron was also the fastest and greatest in this group. In the controls the iron absorbed accumulated in the marrow and the spleen on the first day; in the sickle cell anaemia group the spleen has an insignificant role in iron storage. The growing radioactivity in the liver parallels that of the heart in the group of sickle cell anaemia patients; however, it remains low in the spleen in the same group, implying a diminution of splenic blood flow. In the sickle cell haemoglobin C and the haemoglobin C patients, the liver and spleen have an intermediate position between that of the sickle cell anaemia group and the control group.
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A Ghanaian family is described in which a sickle-cell haemoglobin C man married to a sickle-cell thalassaemia woman produced 12 children (eight alive). Four children have sickle-cell anaemia, two sickle-cell haemoglobin C disease, one has sickle-cell thalassaemia, and one is asymptomatic haemoglobin C thalassaemia.It is emphasized that the contribution that adult sickle-cell disease patients make, through procreation, to the persistence of the S gene may be greater than is normally supposed, and that this contribution may soon outstrip that made by balanced polymorphism through falciparum malaria. Widespread haemoglobin genotyping in schools leading to genetic counselling is advocated to decrease the incidence of sickle-cell disease.
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