Molecular Spectrum of α- and β-Thalassemia among Young Individuals of Marriageable Age in Guangdong Province, China.

Author: Bing Yi ZHOU ¹ ; Yong Xia WANG ¹ ; Shan Shan XU ¹ ; Heng GU ¹ ; Ming Zhen LI ¹
Author Information

1. NHC Key Laboratory of Male Reproduction and Genetics, Family Planning Research Institute of Guangdong Province, Guangzhou 510060, Guangdong, China.
Publication Type:Letter
Keywords: China; Guangdong Province; Marriageable age; Molecular spectrum; Thalassemia
MeSH: Adult; China; Female; Genotype; Humans; Male; Middle Aged; Mutation; Sequence Analysis, DNA; Young Adult; alpha-Thalassemia/genetics*; beta-Thalassemia/genetics*
From: Biomedical and Environmental Sciences 2021;34(10):824-829
CountryChina
Language:English
Abstract: Thalassemia is a group of genetically heterogeneous diseases characterized by hemolytic anemia. To investigate molecular characteristics of α- and β-thalassemia among young individuals of marriageable age in Guangdong Province, 24,788 subjects with suspected thalassemia were genetically tested for α- and β-thalassemia by Gap-PCR and reverse dot blot during 2018-2019. For suspected rare thalassemia cases, DNA sequencing was performed to identify rare and unknown thalassemia gene mutations. A total of 14,346 thalassemia carriers were detected, including 7,556 cases of α-thalassemia with 25 genotypes and 8 α-gene mutations identified, 5,860 cases of β-thalassemia with 18 genotypes and 18 β-gene mutations identified, and 930 cases of compound α/β-thalassemia. Among them, the frequency of --