Molecular Genetic Mechanisms of Hereditary Spherocytosis: Current Perspectives.
Acta Haematol
; 139(1): 60-66, 2018.
Article
en En
| MEDLINE
| ID: mdl-29402830
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Esferocitosis Hereditaria
/
Predisposición Genética a la Enfermedad
/
Estudios de Asociación Genética
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Acta Haematol
Año:
2018
Tipo del documento:
Article