The relationship between hereditaryspherocytosis and protein 4.2 / 医学研究生学报

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.