| Literature DB >> 7427238 |
C Kattamis, A Metaxotou-Mavromati, E Tsiarta, C Metaxatou, P Wasi, W G Wood, L Pressley, D R Higgs, J B Clegg, D J Weatherall.
Abstract
A case of haemoglobin Bart's hydrops syndrome was characterised in a Greek family with a history of three other fetuses with hydrops. Family studies showed that both the mother and father carried alpha-thalassaemia genes, and globin-chain synthesis analysis of the present fetus showed a total absence of alpha-chain production. The haemoglobin composition of the fetus was similar to that seen in cases in south-east Asia, and analysis of DNA from the Greek case confirmed the total deletion of the alpha-chain genes. The extent of the deletion, however, differed from that seen in south-east Asian cases and included the loss of one of the embryonic zeta-chain genes. Thus the severe form of alpha-thalassaemia occurs in Greece but has arisen independently from the similar condition in south-east Asia. The condition must be considered in any woman of this racial background who gives a history of unexplained stillbirths.Entities:
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Year: 1980 PMID: 7427238 PMCID: PMC1713863 DOI: 10.1136/bmj.281.6235.268
Source DB: PubMed Journal: Br Med J ISSN: 0007-1447