1.
Acta Haematol
; 139(1): 60-66, 2018.
Article
in English
| 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.
Subject(s)
Genetic Association Studies , Genetic Predisposition to Disease , Spherocytosis, Hereditary/genetics , Biomarkers , Humans , Mutation , Spherocytosis, Hereditary/diagnosis , Spherocytosis, Hereditary/metabolism
2.
Zhongguo Xue Xi Chong Bing Fang Zhi Za Zhi
; 27(1): 108-9, 2015 Feb.
Article
in Chinese
| MEDLINE
| ID: mdl-26094435
ABSTRACT
This paper reports the hematology screening and parasite morphological features of one case of imported falciparum malaria, and reviews the relevant literature.
