Haemoglobin Bart's hydrops syndrome in Greece.

نویسندگان

  • 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
چکیده

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.

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عنوان ژورنال:
  • British medical journal

دوره 281 6235  شماره 

صفحات  -

تاریخ انتشار 1980