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Globin Synthesis in the Jamaican Negro with Beta‐Thalassaemia
Author(s) -
Friedman Sh.,
Schwartz E.,
Ahern V.,
Ahern E.
Publication year - 1974
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.1365-2141.1974.tb06669.x
Subject(s) - heterozygote advantage , hemoglobinopathy , globin , medicine , locus (genetics) , biology , immunology , allele , genetics , disease , hemoglobin , gene
S ummary . Globin synthesis was studied in three Jamaican Negro families with 18 heterozygotes and five homozygotes for β‐thalassaemia. Synthesis of the β‐chain of Hb A in the peripheral blood of heterozygotes was equal to that of α‐chain in 10 patients and was decreased in the remainder. In one patient with Hb C β‐thalassaemia, the β/α ratio was normal. These findings were similar to those in American Negroes, but differed from those in Caucasians with β‐thalassaemia trait, in each of whom the β/α ratio was decreased. Globin synthesis was balanced in the bone marrows of Negro and Caucasian heterozygotes. Despite the milder clinical disease in Negro homozygotes as compared to Caucasian patients, the β/α synthesis ratios were similar in both groups. The presence of α‐thalassaemia combined with β‐thalassaemia in Negro heterezygotes is not a likely explanation for the high incidence of balanced globin synthesis ratios. The expression of relative β‐ to α‐chain synthesis in Negro heterozygotes appears to be modified by a factor which is not linked to the δ‐chain locus. The nature of this factor is not known at present.