Clinical and genetics features of patients with hereditary spherocytosis
10.3760/cma.j.cn114452-20240123-00044
- VernacularTitle:遗传性球形红细胞增多症患者的临床及遗传学分析
- Author:
Qingjie MENG
1
;
Huan WU
;
Weina GUO
;
Xin SHEN
;
Yun XIANG
Author Information
1. 华中科技大学同济医学院附属武汉儿童医院检验科，武汉 430016
- Keywords:
Polycythemia;
Hereditary spherocytosis;
Next-generation sequencing (NGS);
Clinical manifestation;
Gene mutation
- From:
Chinese Journal of Laboratory Medicine
2024;47(5):543-547
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical features and characteristics of gene mutation of patients with Hereditary spherocytosis(HS) and report novel mutations found in this work.Method:We reviewed the literatures for the clinical and genetic features of the 35 patients (24 boys and 11 girls, median age 7.8 years) with HS admitted to Wuhan Children′s Hospital from June 2017 to January 2023. Analyze clinical manifestations the blood routine, and biochemical laboratory results, and use Next-generation sequencing (NGS) to detect pathogenic mutation. Mann-Whitney U testing method was used to analyze the hematological parameters between different genotypes. Results:All of the patients showed clinical manifestations of anemia; 33 children had jaundice, 28 children had splenomegaly, and 11 children had gallstones. Gene mutations were detected in all 35 patients. 17 patients carried ANK1 variants, 14 patients harbored SPTB variants, 1 patient carried SPTA1variants, 1 patient carried SLC4A1 variants, and 2 patients harbored both ANK1 and SPTB variants. A total of 39 heterozygous mutations were found, among which 27 were pathogenic, 6 was likely pathogenic and 6 were of unknown significance according to the ACMG guideline; Among 39 mutations identified, 31 were novel. There were no significant differences in peripheral blood cell parameters and hemolysis indicators between the ANK1 mutant group and the SPTB group (all P>0.05). Conclusion:SPTB and ANK1 mutations are the most common mutations in HS pathogenic genes among patients in Hubei, China, and there was no significant difference in phenotype between ANK1 and SPTB genotype. We found 31 unreported novel variants and expanded the spectrum of variation in this type of disease .
