Molecular Epidemiological Characterization and Health Burden of Thalassemia in Jiangxi Province, P. R. China

Lin, Min; Zhong, Tianyu; Chen, Yiguo; Wang, Jianzhong; Wu, Jianhua; Lin, Fen; Tong, Xin; Yang, Haiyan; Hu, Xiaomei; Hu, Rong; Zhan, Xia; Yang, Hui; Luo, Zhiyong; Li, Wenyu; Yang, Li-Ye

doi:10.1371/journal.pone.0101505

Cited by 44 publications

(70 citation statements)

References 19 publications

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“…However, no epidemiological study of thalassemia has been reported for Sichuan Province. First, we found a relatively lower genetic frequency of thalassemia (3.43%, 112/3262) in the Chengdu region compared with most regions of Southern China, including Guangxi (24.51%, 172/1182, p50.05), Guangdong (11.07%, 478/5605 + 198/7792, p50.05) and Southern Jiangxi (9.49%, 1419/5789, p50.05) (14)(15)(16). In the population studied here, 2.21% cases carried a-thal mutations; a-thal is mainly caused by the Southeast Asian deletion (--SEA ), which displays normal Hb values or slightly hypochromic anemia.…”

Section: Discussionmentioning

confidence: 77%

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Molecular Epidemiological Investigation of Thalassemia in the Chengdu Region, Sichuan Province, Southwest China

Yang

et al. 2015

Hemoglobin

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Thalassemia is the most common inherited disease in southern China. However, this disorder is usually ignored by the health system in the Sichuan Province due to the lack of epidemiological data. To provide basic epidemiological data for thalassemia screening, genetic counseling, and prenatal diagnosis (PND) in the Chengdu region, a total of 3262 healthy subjects were assessed by complete blood count (CBC), reverse dot-blot gene chip, gap-polymerase chain reaction (gap-PCR), and PCR-DNA sequencing. A frequency of heterozygous thalassemia of 3.43% (112/3262) was found, of which 2.21% (72/3262) patients carried α-thalassemia (α-thal), 1.19% (39/3262) β-thalassemia (β-thal) and 0.3% (1/3262) hereditary persistence of fetal hemoglobin (Hb) (HPFH)/δβ-thalassemia (δβ-thal). Four types of α-thal mutations were found, the most prevalent being - -(SEA) (68.06%), followed by -α(3.7) (rightward deletion, 25.0%), Hb Quong Sze (Hb QS; HBA2: c.377 T > C) (4.17%), and -α(4.2) (leftward deletion, 2.78%). The seven β-thal mutations included: codons 41/42 (-TTCT), HBB: c.126_129delCTTT (13/39, 33.33%); codon 17 (A > T), HBB: c.52 A > T (11/39, 28.95%); IVS-II-654 (C > T), HBB: c.316-197 C > T (9/39, 23.68%); -28 (A > G), HBB: c.-78 A > G (3/39, 7.69%); -29 (A > G), HBB: c.-79 A > G (1/39, 2.56%); codons 27/28 (+C), HBB: c.84_85insC (1/39, 2.56%), and the rare IVS-II-850 (G > T), HBB: c.316-1 G > T (1/39, 2.56%). Only one case of the Southeast Asian HPFH deletion was found. This is the first detailed molecular epidemiological survey of thalassemia in the Chengdu region, Sichuan Province, People's Republic of China (PRC).

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Section: Discussionmentioning

confidence: 77%

“…Hainan and Southern Jiangxi provinces (10)(11)(12)(13)(14). To propose effective public health strategies for the prevention and control of thalassemia, it is important to first obtain reliable epidemiological data for the local population.…”

Section: Discussionmentioning

confidence: 99%

Molecular Epidemiological Investigation of Thalassemia in the Chengdu Region, Sichuan Province, Southwest China

Yang

et al. 2015

Hemoglobin

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“…These changes were probably caused by different genetic screening methods and/or population mobility and migration. The rate of thalassemia in Chenzhou was significantly higher than the average of Hunan Province (4.18%) and was closer to that of Guangdong Province and southern Jiangxi Province . Notably, the rates of α and β‐thalassemia in Chenzhou had a special distribution pattern.…”

Section: Discussionmentioning

confidence: 84%

Next‐generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China

Zhang

et al. 2019

Clinical Laboratory Analysis

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ObjectivesThalassemia is a highly prevalent monogenic inherited disease in southern China. It is important to collect epidemiological data comprehensively for proper prevention and treatment.MethodsIn this study, blood samples collected from 15 807 residents of Chenzhou were primarily screened by hematological tests. A total of 3973 samples of suspected thalassemia carriers were further characterized by combined next‐generation sequencing (NGS) and Gap‐PCR.ResultsIn total, 1704 subjects were diagnosed as thalassemia carriers with a total prevalence rate of 10.78%, including 943 α‐thalassemia carriers, 708 β‐thalassemia carriers, and 53 composite α and β‐thalassemia carriers. The prevalence rates of α‐thalassemia, β‐thalassemia, and composite α and β‐thalassemia were 5.97%, 4.48%, and 0.34%, respectively. Meanwhile, we characterized 19 α‐thalassemia variations and 21 β‐thalassemia variations in thalassemia carriers. Approximately 2.88% of thalassemia carriers would be missed by traditional genetic analysis. In addition, four novel thalassemia mutations and one novel abnormal hemoglobin mutation were identified.ConclusionsOur data suggest a high prevalence of thalassemia and a diverse spectrum of thalassemia‐associated variations in Chenzhou. Also, combined NGS and Gap‐PCR is an effective thalassemia screening method. Our findings might be helpful for prevention and treatment of thalassemia in this region.

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“…It has been shown that the carrier rate of alpha-thalassemia is much higher than in Nanchang (1.49%) and Xinyu (2.2%) and slightly lower than in Ganzhou (7.19%) in Jiangxi [13]. The carrier rate of betathalassemia is higher than in Nanchang (1.14%), Xinyu (1.7%) and also slightly lower than Ganzhou (2.3%) [13]. In addition, the composite carrier rates of alpha-thalassemia and beta-thalassemia in…”

Section: Geographical Distribution Of Thalassemia Carriers In Ji'anmentioning

confidence: 96%

“…In recent years, a large-scale investigation of thalassemia was carried out in different regions of China [4,8,12], but the epidemiologic characteristics of thalassemia among people from Jiangxi Province, as one of the high-prevalence areas, especially those from Ji'an City, are not fully understood [13]. Ji'an is located in the central part of Jiangxi Province, with a total area of 25,300 square kilometers and a population of 4,956,600.…”

Section: Introductionmentioning

confidence: 99%

Large-scale screening of thalassemia in Ji’an, P.R. China

Qiu

Mao

Chen

et al. 2020

Preprint

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Background: To evaluate the prevalence of alpha- and beta-thalassemia in Ji'an City, Jiangxi Province, 28,941 people in the region were genetically screened to identify various thalassemia genotypes. Methods: High-throughput amplicon sequencing and gap-PCR was used to screen 301 thalassemia alleles in 28,941 people in the region. Pregnant women were the focus of this screening, and if a pregnant woman harbored mutations in a thalassemia-inducing gene, her spouse was also genetically tested. Results: Of the participants, 2,380 people were carriers of thalassemia, with at least one thalassemia allele, including 1,742 alpha-thalassemia carriers, 686 beta-thalassemia carriers and 48 composite alpha- and beta-thalassemia carriers. The total carrying rate of thalassemia in Ji'an was 8.22%, and the carrying rates of alpha- and beta-thalassemia were 6% and 2.37%, respectively. In addition, the first measured carrier rate of composite alpha- and beta-thalassemia in Ji'an was 0.17%. According to the geographical distribution of the 1,742 alpha -thalassemia carriers, the city with the highest carrier rate was Suichuan, followed by Wan’an and Taihe. According to the geographical distribution of the 686 beta-thalassemia carriers, the top three cities with high carrier rates were Suichuan, Wan'an and Xiajiang, sequentially. Conclusions: This research emphasizes the importance of large-scale population screening and that comprehensive molecular epidemiology data are necessary for the proper prevention and treatment of thalassemia. The epidemiological data updated in this research may enable the local government to focus on the severity of this disease and determine a method for effective resource allocation under limited resource conditions.

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Molecular Epidemiological Characterization and Health Burden of Thalassemia in Jiangxi Province, P. R. China

Cited by 44 publications

References 19 publications

Molecular Epidemiological Investigation of Thalassemia in the Chengdu Region, Sichuan Province, Southwest China

Molecular Epidemiological Investigation of Thalassemia in the Chengdu Region, Sichuan Province, Southwest China

Next‐generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China

Large-scale screening of thalassemia in Ji’an, P.R. China

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