Haemoglobin Bart's hydrops syndrome in Greece.
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.
D000328:Adult; D004487:Edema / Q000196:embryology / Q000235:genetics*; D005260:Female; D005313:Fetal Death; D005914:Globins / Q000235:genetics; D006115:Greece; D006453:Hemoglobinopathies / Q000196:embryology / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000032:analysis; D006801:Humans; D008297:Male; D011247:Pregnancy; D013577:Syndrome; D013789:Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D005914:Globins