杂合子血红蛋白E（β26位谷氨酸被赖氨酸取代）中的红细胞低色素血症

[Erythrocyte hypocromia in heterozygous hemoglobin E (beta 26 Glu replaced by Lys)].

作者信息

Keller P, Kohne E

出版信息

Acta Haematol. 1976;56(5):276-84. doi: 10.1159/000207948.

DOI:10.1159/000207948

Abstract

A family from south-western Germany with 9 heterozygous carriers of haemoglobin E (beta 26 Glu-Lys) is presented. The abnormal haemoglobin has been identified by different electrophoretic techniques and fingerprint analysis. In contrast to earlier observations, haemoglobin E is even in heterozygous carriers associated with erythrocytic hypochromia with MCH values from 23.6 to 26.2 pg. As an explanation for the hypochromia a decreased haemoglobin synthesis is supposed.

摘要

本文报道了来自德国西南部的一个家族，该家族中有9名血红蛋白E（β26谷氨酸-赖氨酸）杂合携带者。已通过不同的电泳技术和指纹分析鉴定出这种异常血红蛋白。与早期观察结果不同的是，即使在杂合携带者中，血红蛋白E也与红细胞低色素血症有关，平均红细胞血红蛋白含量（MCH）值在23.6至26.2皮克之间。推测血红蛋白合成减少是导致低色素血症的原因。