The characteristic of hereditary spherocytosis related gene mutation in 37 Chinese hereditary spherocytisis patients
10.3760/cma.j.issn.0253-2727.2018.11.005
- VernacularTitle: 37例遗传性球形细胞增多症基因突变特征分析
- Author:
Guangxin PENG
1
;
Wenrui YANG
;
Xin ZHAO
;
Liping JIN
;
Li ZHANG
;
Kang ZHOU
;
Yang LI
;
Lei YE
;
Yuan LI
;
Jianping LI
;
Huihui FAN
;
Lin SONG
;
Yang YANG
;
Youzhen XIONG
;
Zhijie WU
;
Huijun WANG
;
Fengkui ZHANG
Author Information
1. Institute of Hematology and Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China
- Publication Type:Journal Article
- Keywords:
Hereditary spherocytosis;
Next-generation sequencing;
Erythrocyte membrane protein;
Mutations
- From:
Chinese Journal of Hematology
2018;39(11):898-903
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To reveal the genetic characteristics of erythrocyte membrane protein in hereditary spherocytosis (HS) in China.
Methods:Next-generation sequencing technology was used to detect mutations in genes of erythrocyte membrane proteins in 51 clinically diagnosed HS patients. The relationship between gene mutations and clinical phenotypes was analyzed.
Results:Mutations in erythrocyte membrane protein genes were detected in 37 patients, including 17 with ANK1 mutations (17/37, 45.9%), 14 with SPTB mutations (14/37, 37.8%), and 5 with SLC4A1 mutations (5/37, 13.5%). One patient carried both heterozygous ANK1 mutation and SPTB mutation (1/37, 2.7%). SPTA1 and EPB42 mutation was not fou nd in any patient. Nonsense mutations (36.8%) and missense mutations (31.6%) were most common. Of the 38 mutations detected, 34 were novel mutations and have not been reported elsewhere (89.5%). Sixteen HS patients underwent parental genetic validation, 6 patients (37.5%) inherited gene mutation from parents and 10 (62.5%) were de novo. The peripheral blood cell parameters of HS patients were not related to the mutant genes and gene mutation types. However, it seems that HS patients with mild clinical status are prone to carry SPTB mutations while more patients with severe clinical status have ANK1 mutations.
Conclusions:ANK1 and SPTB are the most common mutant genes in Chinese HS patients, mainly with missense mutations and nonsense mutations. There was no significant correlation between the mutation of HS related genes and the severity of HS.
