Research Article

Haemoglobin Bart's hydrops syndrome in Greece.

Br Med J 1980; 281 doi: (Published 26 July 1980) Cite this as: Br Med J 1980;281:268
  1. C Kattamis,
  2. A Metaxotou-Mavromati,
  3. E Tsiarta,
  4. C Metaxatou,
  5. P Wasi,
  6. W G Wood,
  7. L Pressley,
  8. D R Higgs,
  9. J B Clegg,
  10. D J Weatherall


    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.