Mutation spectrum and phenotype analysis of hemoglobin subunit delta gene among prenatal population in Xiangtan City
10.3760/cma.j.cn231583-20240102-00003
- VernacularTitle:湘潭市产前人群δ珠蛋白基因突变谱及表型分析
- Author:
Wei YIN
1
;
Chenhui LI
;
Yalong WANG
;
Jingxi HUANG
;
Li YANG
;
Dandan MAN
;
Xiaoyan ZHU
;
Kaiyun YANG
Author Information
1. 湘潭市妇幼保健院优生遗传科，湘潭 411104
- Keywords:
Thalassemia;
Hemoglobin subunit delta gene;
Hemoglobin
- From:
Chinese Journal of Endemiology
2024;43(7):536-541
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the mutation spectrum and hematological phenotype of hemoglobin subunit delta(HBD) gene among prenatal population in Xiangtan City, and to provide scientific basis for screening and diagnosis of rare and complex hemoglobinopathia.Methods:Prenatal population underwent screening and genetic testing for thalassemia at Xiangtan Maternal and Child Health Hospital from October 2022 to December 2023 were selected as the study subjects, combined with capillary electrophoresis results, further HBD gene sequencing was performed to identify specific genotypes.Results:A total of 5 371 subjects were enrolled, 22 cases of HBD gene mutations were detected, with a mutation carrier rate of 0.41% (22/5 371). Among them, 14 cases were diagnosed with δ thalassemia, 7 cases were δ abnormal hemoglobin, and 1 case was δ thalassemia combined with δ abnormal hemoglobin. There were 7 HBD mutant genotypes were included, with -77(T>C) being the most common, followed by hemoglobin (Hb) A 2-Huadu and CD34(+GGT); accounting for 68.2% (15/22), 9.1% (2/22), 9.1% (2/22). CD34(+GGT) was a newly discovered genotype, and CD7(GAG>TAG) was the first reported genotype in Chinese population. The Hb content, mean corpuscular volume, and mean corpuscular hemoglobin content were normal or nearly normal in 22 carriers of the HBD gene mutation; capillary electrophoresis demonstrated reduced Hb A 2 content in all cases. Conclusions:HBD gene mutations have been detected in the prenatal population in Xiangtan City, with -77(T>C) being the most common mutation genotype. None of the mutation carriers showed anemia.
