The Spectrum of β-Thalassemia Mutations in Siirt Province, Southeastern Turkey

Yilmaz, Sedat

doi:10.1080/03630269.2019.1647852

Cited by 3 publications

(2 citation statements)

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“…As a result of the protection against malaria conferred to haemoglobinopathy carriers, hereditary Hb disorders are common in tropical regions. Although these diseases show typical regional and ethnic differences, 10 they can be found in most countries due to population migration. 13 As investigating the prevalence of haemoglobinopathy in different areas may help in prevention, the purpose of this study was to screen and analyse haemoglobinopathy in the Sichuan Han population.…”

Section: Discussionmentioning

confidence: 99%

“… 9 Indeed, haemoglobinopathy is common in tropical regions but is now found in most countries due to population migration. 10 Sichuan is an important province in southwest China with a registered population of 83.41 million by the end of 2018 ( http://www.sc.gov.cn ). Furthermore, Sichuan was the main destination of the immigrants from Huguang during the Qing Dynasty.…”

Section: Introductionmentioning

confidence: 99%

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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)

Lin

Liu

et al. 2021

Genes & Diseases

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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 , -α 3.7 , -α 4.2 , α CS , and α QS . 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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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%