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The Negro Variety of Hereditary Persistence of Fetal Haemoglobin is a Mild Form of Thalassaemia
Author(s) -
CHARACHE S.,
CLEGG J. B.,
WEATHERALL D. J.
Publication year - 1976
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1976.tb03599.x
Subject(s) - microcytosis , persistence (discontinuity) , fetus , fetal hemoglobin , heterozygote advantage , medicine , endocrinology , anemia , biology , genetics , pregnancy , iron deficiency , gene , allele , geotechnical engineering , engineering
S ummary . 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 A 2 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 α/γ‐chain production ratio of about 1.5, similar to that found in β‐thalassaemia heterozygotes. Thus Negro HPFH appears to be a well‐compensated form of δβ thalassaemia.