Unusual combination of genetic defects in a Sicilian family: beta-thalassaemia, haemoglobin Lepore Boston-Washington and heterocellular hereditary persistence of fetal haemoglobin.
This paper reports a Sicilian family in which beta-thalassaemia, haemoglobin Lepore Boston-Washington and heterotocellular hereditary persistence of fetal haemoglobin (HPFH) were present in various combinations. The most interesting combination was that of Hb Lepore and heterocellular HPFH, which has not been previously reported. This subject was clinically normal, with the haematological picture of Hb Lepore trait and an unusually high level of HbF due to an increased number of circulating F cells.
D000328:Adult; D000368:Aged; D001797:Blood Protein Electrophoresis; D002648:Child; D002675:Child, Preschool; D005260:Female; D005319:Fetal Hemoglobin / Q000378:metabolism*; D006453:Hemoglobinopathies / Q000097:blood / Q000150:complications / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000378:metabolism*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013789:Thalassemia / Q000097:blood / Q000150:complications / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C039800:hemoglobin Lepore Boston-Washington; D005319:Fetal Hemoglobin; C037659:hemoglobin Lepore