The Negro Variety of Hereditary Persistence of Fetal Haemoglobin is a Mild Form of Thalassaemia

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Abstract
Further studies were carried out on blood of the 15 yr old Negro male from Baltimore who was the 1st reported case of the homozygous state for hereditary persistence of fetal Hb [HPFH]. His red cells contain only Hb F; Hb A and A2 were never detected. Over a 15 yr period of follow up, the red cells of this individual showed persistent microcytosis with reduced MCH [mean cell Hb] and MCV [mean cell volume] values. His whole-blood P50 [partial pressure of O2 at 50% Hb saturation, 37.degree. C, pH 7.4] value is decreased, probably because of lack of interaction between Hb F and 2,3-diphosphoglycerate. His Hb level at the age of 15 yr is lower than would be predicted from the degree of increased O2 affinity. Globin-chain synthesis studies suggest that this is because he has a mild thalassemia disorder with an .alpha./.gamma.-chain production ratio of about 1.5, similar to that found in .beta.-thalassemia heterozygotes. Negro HPFH appears to be a well-compensated form of .delta..beta. thalassemia.