Analysis of rare mutations associated with Thalassemia and their hematological characteristics in Chenzhou region of Hunan Province
10.3760/cma.j.cn511374-20230210-00065
- VernacularTitle:郴州地区罕见地中海贫血基因突变及血液学特征的分析
- Author:
Caiyun LI
1
;
Jian ZHANG
;
Yingli CAO
;
Haoqing ZHANG
;
Dongqun HUANG
;
Jufang TAN
;
Shuai HOU
;
Dongzhu LEI
Author Information
1. 郴州市第一人民医院中心医院，郴州 423000
- Keywords:
Thalassemia;
Genetic mutation;
Rare mutation;
Hematological characteristics
- From:
Chinese Journal of Medical Genetics
2024;41(6):708-714
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the distribution and hematological characteristics of rare thalassemia-associated mutations in Chenzhou region of Hunan Province with an aim to provide a basis for genetic counseling and effective prevention.Methods:A total of 37 370 individuals enrolled from January 2015 to December 2021 were screened by routine blood test and hemoglobin electrophoresis. The genotypes were determined with high-throughput sequencing.Results:A total of 8 455 thalassemia mutations (including 185 rare ones) were detected, which had involved 27 mutational types. Rare type α-Thalassemia --THAI and CD31 (AGG>AAG) have the typical microcytic hypochromic hematological features, whilst SEA-HPFH, CD14 (CTG>-TG), CD37 (TGG>TAG), -90(C>T), Codon 15 (G>A), IVS-Ⅰ-128 (T>G), CD86 (GCC>GC-) and Chinese Gγ+ (Aγδβ)0 had typical microcytic hypochromic and β-thalassemia-associated hematological features of elevated HbA2 or HbF. In addition, the -50(G>A)heterozygotes of β-thalassemia had normal or slightly decreased MCV and MCH without an increase in HbA2.Conclusion:Various forms of thalassemia-associated mutations have been identified in the Chenzhou region of Hunan Province. Above finding has facilitated development of preventive and control strategies for thalassemia as well as birth health programs.
