Haemoglobin Bart's hydrops syndrome in Greece.
Br Med J 1980; 281 doi: https://doi.org/10.1136/bmj.281.6235.268 (Published 26 July 1980) Cite this as: Br Med J 1980;281:268
- 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.