Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives | Zendy

Benjin He | Zendy; Lin Liao | Zendy; Zengfu Deng | Zendy; Yifeng Tao | Zendy; Yuchan Xu | Zendy; Faquan Lin | Zendy

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Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives

Author(s) -

Benjin He,

Lin Liao,

Zengfu Deng,

Yifeng 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.

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