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δβ‐Thalassaemia in a Chinese Family
Author(s) -
Mann J. R.,
MacNeish A. S.,
Bannister D.,
Clegg J. B.,
Wood W. G.,
Weatherall D. J.
Publication year - 1972
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.1365-2141.1972.tb07074.x
Subject(s) - genetics , heterozygote advantage , beta thalassaemia , globin , thalassemia , fetal hemoglobin , biology , gene , genotype , fetus , pregnancy
S ummary . δβ‐Thalassaemia has been observed for the first time in individuals of Chinese origin. The clinical and haematological features have been characterized in the heterozygous state and in the double heterozygous state withβ‐thalassaemia. Studies of haemoglobin synthesis indicate that the degree of globin chain imbalance in β‐thalassaemia is less than that found in β‐thalassaemia. Analysis of the foetal haemoglobin has shown that all individuals carrying the δβ‐thalassaemia gene in this family synthesize only the α 2 γ 2 136 glycine variety. This type of foetal haemoglobin has been found previously only in two Negro individuals heterozygous for hereditary persistence of foetal haemoglobin (HPFH). The genetic relationships between δβ‐thalassaemia and HPFH are discussed in the light of these new findings.