Unusual combination of genetic defects in a Sicilian family: β‐thalassaemia, haemoglobin Lepore Boston‐Washington and heterocellular hereditary persistence of fetal haemoglobin

摘要

Summary.This paper reports a Sicilian family in which β‐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 Hb F due to an increased number of circulating F c