Gallagher Patrick G
Department of Pediatrics, Yale University School of Medicine, 333 Cedar Street, PO Box 208064, New Haven, CT 06520-8064, USA.
Semin Hematol. 2004 Apr;41(2):142-64. doi: 10.1053/j.seminhematol.2004.01.003.
Hereditary elliptocytosis (HE) is a common disorder of erythrocyte shape, occurring especially in individuals of African and Mediterranean ancestry, presumably because elliptocytes confer some resistance to malaria. The principle lesion in HE is mechanical weakness or fragility of the erythrocyte membrane skeleton due to defects in alpha-spectrin, beta-spectrin, or protein 4.1. Numerous mutations have been described in the genes encoding these proteins, including point mutations, gene deletions and insertions, and mRNA processing defects. Several mutations have been identified in a number of individuals on the same genetic background, suggesting a "founder effect." The majority of HE patients are asymptomatic, but some may experience hemolytic anemia, splenomegaly, and intermittent jaundice.
遗传性椭圆形红细胞增多症（HE）是一种常见的红细胞形态异常疾病，尤其在非洲和地中海血统的个体中较为常见，推测是因为椭圆形红细胞对疟疾具有一定的抵抗力。HE的主要病变是由于α-血影蛋白、β-血影蛋白或蛋白4.1缺陷导致红细胞膜骨架的机械性脆弱或易碎。在编码这些蛋白质的基因中已描述了许多突变，包括点突变、基因缺失和插入以及mRNA加工缺陷。在许多具有相同遗传背景的个体中已鉴定出几种突变，提示存在“奠基者效应”。大多数HE患者无症状，但有些患者可能会出现溶血性贫血、脾肿大和间歇性黄疸。
