Open AccessMolecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives
Author(s) -
Bin He,
Lin Liao,
Zengfu Deng,
Yue Tao,
Yuchan Xu,
Faquan Lin
Publication year - 2018
Publication title -
acta haematologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.574
H-Index - 56
eISSN - 1421-9662
pISSN - 0001-5792
DOI - 10.1159/000486229
Subject(s) - hereditary spherocytosis , gene , genetics , biology , molecular genetics , mutation , genetic engineering
With the widespread use of genetic diagnostic technologies, many novel mutations have been identified in hereditary spherocytosis (HS)-related genes, including SPTA1, SPTB, ANK1, SLC4A1, and EPB42. 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.