Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives.

Abstract:

: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.

journal_name

Acta Haematol

journal_title

Acta haematologica

authors

He BJ,Liao L,Deng ZF,Tao YF,Xu YC,Lin FQ

doi

10.1159/000486229

subject

Has Abstract

pub_date

2018-01-01 00:00:00

pages

60-66

issue

1

eissn

0001-5792

issn

1421-9662

pii

000486229

journal_volume

139

pub_type

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