Brief Notes on Selected Hemoglobinopathies Experienced in Yamaguchi University

概要

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Hemoglobin (Hb) variants were found in Japanese for the first time in 1959, ten years after the discovery of sickle cell Hb (Hb S) in USA. Hb Ms as a couse of herediatary nigremia marked the first stage of hemoglobinopahthy research in Japan, and a variety of unstable hemoglobins causing hemolytic disease the second stage. Although the prevalence of vaints of Hb A (α or β) among Japanese was estimated to be only 1 : thousands, they ware rich in varietry. Virtually all types of abnormal Hbs were found among Japanese: hereditary nigremia, unstable Hb hemolytic disease, hyperunatable Hb disease mimicking a relatively severe form of thalassemia sydrom sydrome, hereditary erythremia due to high oxygen affinity Hbs, and so on. Most Hb variants ware clinically silent, but some of them showed unique properties of intrest. Thalassemia (thal) traits ware more frequent than the structural variants of Hb A (1 : 1000 for β-thal, more for α-thal). Like Hb variants, mutations leading to β-thal ware rich in variety, but several of them comprized over half of all cases. Two most prevalent β-thal mutations, a base substitution producing terminator at codon 90 (with β0-thal expression9 and that at -31 within the ATA box (β+ -thal),seemed unique to Japanese.
Yamaguchi University Graduate School of Medicineの論文