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

Xia Yu; Min Lin; Chenggui Liu; Zhiyong Liao; Yongqiong Wei; Rui Liu; Jing Zhu

doi:10.1016/j.gendis.2019.11.001

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

Full-length article | 更新时间：2022-06-24

- Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassaemia in Sichuan Province (Southwestern China)
- Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassaemia in Sichuan Province (Southwestern China)
- Genes & Diseases 2021年8卷第2期
- 作者机构：
  
  1. Pediatric Research Institute, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Pediatrics, Children's Hospital of Chongqing Medical University,Chongqing,PR China,400014
  2. Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Sichuan Provinnce,PR China,611731
  3. School of Food Engineering and Biotechnology, Hanshan Normal University,Guangdong Province,Chaozhou,PR China,515063
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2019.11.001
  中图分类号：
- 纸质出版日期：2021，
  
  网络出版日期：2021-3-1，
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Xia Yu, Min Lin, Chenggui Liu, 等. Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassaemia in Sichuan Province (Southwestern China)[J]. Genes & Diseases, 2021,8(2).

Xia Yu, Min Lin, Chenggui Liu, et al. Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassaemia in Sichuan Province (Southwestern China)[J]. Genes & Diseases, 2021,8(2).
Xia Yu, Min Lin, Chenggui Liu, 等. Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassaemia in Sichuan Province (Southwestern China)[J]. Genes & Diseases, 2021,8(2). DOI： 10.1016/j.gendis.2019.11.001.

Xia Yu, Min Lin, Chenggui Liu, et al. Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassaemia in Sichuan Province (Southwestern China)[J]. Genes & Diseases, 2021,8(2). DOI： 10.1016/j.gendis.2019.11.001.

摘要

Abstract

The 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

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-thalassaemia 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

-α

3.7

-α

4.2

and α

. Seven types of β-thalassaemia mutation were found in this study: CD41-42 (-TTCT) was the most frequent (28.47%)

followed by 17 (A

−28 (A

and IVS-II-654 (C

T). The main abnormal haemoglobin genotype (HbE) and thalassaemia genotype (--

SEA

CD41-42 (-TTCT)) were consistent with those in other regions of China

but the carrier rate of β-thalassaemia in Sichuan was higher than that of α-thalassaemia.

关键词

Keywords

HaemoglobinopathyMolecular epidemiologySichuanThalassaemiaPopulation migration

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