The relationship between hereditaryspherocytosis and protein 4.2
10.16571/j.cnki.1008-8199.2018.08.019
- VernacularTitle: 遗传性球形红细胞增多症与4.2蛋白相关性的研究进展
- Author:
Yang-yang WU
1
;
Lin LIAO
1
;
Fa-quan LIN
1
Author Information
1. Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Nanning 530021, Guangxi, China
- Publication Type:Journal Article
- Keywords:
hereditary spherocytosis;
protein 4.2;
genic mutation
- From:
Journal of Medical Postgraduates
2018;31(8):874-877
- CountryChina
- Language:Chinese
-
Abstract:
Hereditary spherocytosis (HS) is a common hereditary hemolytic disease. The molecular pathogenesis of HS involves gene mutations, which lead to deficiency or absence of erythrocyte membrane proteins. Five major pathogenic genes of SPTA1, SPTB, ANK1, SLC4A1 and EPB42 had been found, and they encode α-spectrin, β-spectrin, ankyrin, band 3 and protein 4.2 respectively. There are many reports about gene mutations of EPB42, which cause deficiency or absence of protein 4.2 abroad. However, few scholars study the correlation between HS and protein 4.2 in China. This review describe the advances of the relationship between HS and protein 4.2 in detail.
