Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassemia in Sichuan Province (Southwestern China)

Publication date: Available online 25 November 2019Source: Genes & DiseasesAuthor(s): Xia Yu, Min Lin, Chenggui Liu, Zhiyong Liao, Yongqiong Wei, Rui Liu, Jing ZhuAbstractThe incidence of haemoglobinopathy is high in China, especially south of the Yangtze River. However, the exact status of haemoglobinopathy in Sichuan is unknown. To carry out a detailed research of haemoglobinopathy in individuals living in Sichuan, 13,298 subjects without clinical symptoms who were living in Sichuan Province, with an age distribution of 5-73 years, were included in this study. Between March 2014 and July 2017, these subjects received examinations at the Medical Lab of Chengdu Women’s & Children’s Central Hospital. Mean corpuscular volume (MCV) <82 fL or mean corpuscular haemoglobin (MCH) <27 pg was used to indicate haemoglobinopathy carriers. Abnormal haemoglobin was screened by electrophoresis, and genes were sequenced to identify genotypes. Genotype diagnosis of alpha- and beta-thalassemia was carried out by using PCR and shunt hybridization. There were 638 suspected haemoglobinopathy carriers (4.80%, 638/13,298). DNA sequencing identified 6 subjects with abnormal haemoglobin genotypes and 15 subjects with Hb E. The frequency of heterozygosity for thalassaemia was 4.12% (1.48% for α-thalassaemia and 2.61% for β-thalassaemia) in Sichuan Province. The mutation spectrum of α-thalassaemia consisted of the five most common mutations: --SEA, -α3.7, -α4.2, αCS, and αQS. Seven ...
Source: Genes and Diseases - Category: Genetics & Stem Cells Source Type: research