Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives

With the widespread use of genetic diagnostic technologies, many novel mutations have been identified in hereditary spherocytosis (HS)-related genes, includingSPTA1,SPTB,ANK1,SLC4A1, andEPB42. However, mutations in HS-related genes are dispersed and nonspecific in the diagnosis of some HS patients, indicating significant heterogeneity in the molecular deficiency of HS. It is necessary to provide the molecular and genetic characteristics of these 5 genes for clinicians to examine HS. Here, we reviewed the recent proposed molecular genetic mechanisms of HS.Acta Haematol 2018;139:60 –66

Source: Acta Haematologica - January 22, 2018 Category: Hematology Source Type: research