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Haemoglobin C/alpha thalassaemia: haematological and biosynthetic studies.

作者信息

Steinberg M H

出版信息

Br J Haematol. 1975 Jul;30(3):337-42. doi: 10.1111/j.1365-2141.1975.tb00549.x.

DOI:10.1111/j.1365-2141.1975.tb00549.x
PMID:1201216
Abstract

A family with genes for haemoglobin C (Hb C) and alpha thalassaemia was studied. The mother had Hb-C trait. The father also had Hb-C trait but in addition displayed microcytosis, elevated Hb-F levels and a concentration of Hb-C less than usual for heterozygotes. The proband was homozygous for Hb-C but had Hb-F levels far exceeding those present in Hb-C disease. Biosynthetic studies of globin synthesis in both father and daughter showed a deficit of alpha chains relative to non-alpha chains, confirming the presence of alpha thalassaemia. The coexistence of alpha thalassaemia influences the level of mutant haemoglobin in haemoglobinopathies in which Hb C is present, in a fashion similar to that observed in sickle-cell trait.

摘要

相似文献

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Scand J Haematol. 1980 Oct;25(4):339-46. doi: 10.1111/j.1600-0609.1981.tb01412.x.

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