Clinical manifestations of erythrocyte membrane protein coding gene mutations in hereditary spherocytosis.
10.3760/cma.j.issn.0253-2727.2018.11.008
- Author:
Xiu Juan SUN
1
;
Hai Yan LI
;
Da Peng LI
;
Yong Ze LIU
;
Jia Yuan ZHANG
;
Yan Ke YIN
;
Ming Huan SU
;
Hong PAN
;
Qiu Ling LI
;
Bo HU
;
Hong LIU
;
Jun SHI
Author Information
1. Institute of Hematology and Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.
- Publication Type:Journal Article
- Keywords:
Erythrocyte membrane protein;
Hereditary spherocytosis;
Mutations
- MeSH:
Adolescent;
Adult;
Child;
Child, Preschool;
Erythrocyte Membrane;
Female;
Hemolysis;
Humans;
Male;
Middle Aged;
Mutation;
Spherocytosis, Hereditary;
Young Adult
- From:
Chinese Journal of Hematology
2018;39(11):912-916
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To investigate the relationship between the erythrocyte membrane protein gene mutations and the clinical severity of hereditary spherocytosis (HS). Methods: Targeted sequencings were performed on 25 HS patients, correlation between HS mutations and patients' clinical characteristics were evaluated. Results: A total of 25 HS patients were enrolled, including 13 males and 12 females with median age of 20 (4-55) years, including 9 compensatory hemolysis patients, 9 patients with mild anemia, 3 patients with moderate anemia and 4 patients with severe anemia. Of them, 18 patients (72%) harbored HS-related mutations, including ANK1 mutation in 6 cases, SLC4A1 mutation in 6 cases, SPTB mutation in 5 cases and 1 case with EPB41 mutation. Seven patients (28%) didn't carry common HS mutations. SPTB and SLC4A1 mutations mainly affected male patients. There was no significant difference between the age of diagnosis (P=0.130) and HGB level (P=0.585) in patients with HS mutation and those without mutation, however, the EMA binding fluorescence intensity (P=0.015), AGLT50 (P=0.032) and EOF minimal hemolytic concentration (P=0.027) were significantly different in these two groups of HS patients. Conclusion: To screen erythrocyte membrane protein coding gene mutations could favor the diagnosis of HS, and patients without mutations have mild clinical phenotype.
