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Genetic and biosynthetic studies of families carrying hemoglobin J α Mexico: Association of α-thalassemia with Hb J

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Summary

Hemoglobin J Mexico, an α chain mutant, was studied in eight unrelated Algerian families. The quantities of the abnormal hemoglobin in 116 subjects are trimodally distributed: 55% in homozygotes, 31% and 38% in heterozygotes. Both hematological data and the α/β chain biosynthetic ratio are normal in heterozygotes with 31% Hb J and in homozygotes. In contrast, the MCV and MCH as well as the α/β biosynthetic ratio are slightly reduced in heterozygotes with 38% Hb J and in their relatives carrying Hb A. The elevated expression of αJ chains in heterozygotes with 38% Hb J may be due to an α thalassemia gene trans to the α>J locus.

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Trabuchet, G., Benabadji, M. & Labie, D. Genetic and biosynthetic studies of families carrying hemoglobin J α Mexico: Association of α-thalassemia with Hb J. Hum Genet 42, 189–199 (1978). https://doi.org/10.1007/BF00283639

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