Haemoglobin Bart's hydrops fetalis syndrome in an infant of Greek origin and prenatal diagnosis of alpha-thalassaemia.
An unusual case of Bart's hydrops fetalis is reported where the patient was born to parents of Greek origin. An exchange transfusion was given. Adult haemoglobin (HbA) was present in addition to HbBart's and HbPortland. A low level of synthesis of alpha-chains was evident. The mother presented again in a subsequent pregnancy for prenatal diagnosis of thalassaemia. The fetus was diagnosed as an alpha-thalassaemia carrier, a diagnosis which was confirmed at birth. The nature of alpha-thalassaemia in the family is discussed.
D001315:Australia; D005260:Female; D006115:Greece / Q000208:ethnology; D006455:Hemoglobins, Abnormal; D006801:Humans; D015160:Hydrops Fetalis / Q000208:ethnology*; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000175:diagnosis*
D006455:Hemoglobins, Abnormal; C030448:hemoglobin Bart's