Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassaemia in Sichuan Province (Southwestern China)
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, 13,298 subjects without clinical symptoms who were...
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KeAi Communications Co., Ltd.
2021-03-01
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| Series: | Genes and Diseases |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S235230421930114X |
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| author | Xia Yu Min Lin Chenggui Liu Zhiyong Liao Yongqiong Wei Rui Liu Jing Zhu |
| author_facet | Xia Yu Min Lin Chenggui Liu Zhiyong Liao Yongqiong Wei Rui Liu Jing Zhu |
| author_sort | Xia Yu |
| collection | DOAJ |
| description | 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, 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-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, -α3.7, -α4.2, αCS, and αQS. Seven types of β-thalassaemia mutation were found in this study: CD41-42 (-TTCT) was the most frequent (28.47%), followed by 17 (A > T), −28 (A > G), 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. |
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| language | English |
| last_indexed | 2024-03-12T07:19:05Z |
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| spelling | doaj.art-48f1a49aff22482ca3125d385ddd2c4a2023-09-02T22:36:20ZengKeAi Communications Co., Ltd.Genes and Diseases2352-30422021-03-0182224231Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassaemia in Sichuan Province (Southwestern China)Xia Yu0Min Lin1Chenggui Liu2Zhiyong Liao3Yongqiong Wei4Rui Liu5Jing Zhu6Pediatric 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, 400014, PR China; Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Sichuan Provinnce, 611731, PR ChinaSchool of Food Engineering and Biotechnology, Hanshan Normal University, Chaozhou, Guangdong Province, 515063, PR ChinaChengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Sichuan Provinnce, 611731, PR ChinaChengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Sichuan Provinnce, 611731, PR ChinaChengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Sichuan Provinnce, 611731, PR ChinaChengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Sichuan Provinnce, 611731, PR ChinaPediatric 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, 400014, PR China; Corresponding author.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, 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-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, -α3.7, -α4.2, αCS, and αQS. Seven types of β-thalassaemia mutation were found in this study: CD41-42 (-TTCT) was the most frequent (28.47%), followed by 17 (A > T), −28 (A > G), 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.http://www.sciencedirect.com/science/article/pii/S235230421930114XHaemoglobinopathyMolecular epidemiologySichuanThalassaemiaPopulation migration |
| spellingShingle | Xia Yu Min Lin Chenggui Liu Zhiyong Liao Yongqiong Wei Rui Liu Jing Zhu 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 and Diseases Haemoglobinopathy Molecular epidemiology Sichuan Thalassaemia Population migration |
| title | Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassaemia in Sichuan Province (Southwestern China) |
| title_full | Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassaemia in Sichuan Province (Southwestern China) |
| title_fullStr | Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassaemia in Sichuan Province (Southwestern China) |
| title_full_unstemmed | Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassaemia in Sichuan Province (Southwestern China) |
| title_short | Genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β-thalassaemia in Sichuan Province (Southwestern China) |
| title_sort | genetic investigation of haemoglobinopathies in a large cohort of asymptomatic individuals reveals a higher carrier rate for β thalassaemia in sichuan province southwestern china |
| topic | Haemoglobinopathy Molecular epidemiology Sichuan Thalassaemia Population migration |
| url | http://www.sciencedirect.com/science/article/pii/S235230421930114X |
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