Cases Analysis of Hemoglobin H Disease Caused by HBA2:c.2T＞C and HBA2:c.2delT Mutations
10.19746/j.cnki.issn1009-2137.2024.02.030
- VernacularTitle:HBA2:c.2T＞C和HBA2:c.2delT两例罕见突变引起血红蛋白H病家系分析
- Author:
Qiu-Hua WANG
1
;
Xing-Yuan CHEN
;
Ning TANG
;
Ti-Zhen YAN
;
Jun HUANG
;
Qing-Yan ZHONG
;
Shi-Qiang LUO
Author Information
1. 柳州市妇幼保健院医学遗传科,广西柳州 545001
- Keywords:
α-globin gene;
HBA2:c.2T＞C;
HBA2:c.2delT;
hemoglobin H disease
- From:
Journal of Experimental Hematology
2024;32(2):520-524
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate two cases of rare pathogenic genes,initiation codon mutations in HBA2 gene,combined with Southeast Asian deletion and their family members to understand the relationship of HBA2:c.2T＞C and HBA2:c.2delT mutations with clinical phenotype.Methods:The peripheral blood of family members was obtained for blood cell analysis and capillary electrophoresis hemoglobin analysis.Gap-PCR and reverse dot blotting(RDB)were used to detect common types of mutations in α-thalassaemia gene.Sanger sequencing was used to analyze HBA1 and HBA2 gene sequence.Results:Two proband genotypes were identified as--SEA/αα with HBA2:c.2T＞C and--SEA/αα with HBA2:c.2delT.HBA2:c.2T＞C/WT and HBA2:c.2delT/WT was detected in family members.They all presented with microcytic hypochromic anemia.Conclusion:When HBA2:c.2T＞C and HBA2:c.2delT are heterozygous that can lead to static α-thalassemia phenotype,and when combined with mild α-thalassemia,they can lead to the clinical manifestations of hemoglobin H disease.This study provides a basis for genetic counseling.
