title: The Negro variety of hereditary persistence of fetal haemoglobin is a mild form of thalassaemia.
abstract: Further studies have been carried out on blood of the 15-year-old Negro male from Baltimore who was the first reported case of the homozygous state for hereditary persistence of fetal haemoglobin. His red cells contain only Hb F; Hbs A and A2 have never been detected. Over a 15-year period of follow up the red cells of this individual have shown persistent microcytosis with reduced MCH and MCV values. His whole-blood p50 value is decreased, probably because of lack of interaction between Hb F and 2,3-diphosphoglycerate. However, his haemoglobin level at the age of 15 years is lower than would be predicted from the degree of increased oxygen affinity. Globin-chain synthesis studies suggest that this is because he has a mild thalassaemia disorder with an alpha/gamma-chain production ratio of about 1.5, similar to that found in beta-thalassemia heterozygotes. Thus Negro HPFH appears to be a well-compensated form of delta beta thalassaemia.
mesh_terms: D000293:Adolescent; D044383:Black People; D005319:Fetal Hemoglobin / Q000096:biosynthesis*; D005914:Globins / Q000096:biosynthesis; D006454:Hemoglobins / Q000032:analysis; D006720:Homozygote; D006801:Humans; D008297:Male; D010100:Oxygen / Q000032:analysis; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
chemical_list: D006454:Hemoglobins; D005914:Globins; D005319:Fetal Hemoglobin; D010100:Oxygen