Prevalence and molecular characterization of common thalassemia among people of reproductive age in the border area of Guangxi-Yunnan-Guizhou province in Southwestern China

Xu, Guidan; Wang, ChunFang; Wang, Junli; Lin, Min; Chang, ZhengYi; Liang, JuHua; Chen, XiaoHao; Zhong, Shi-Mao; Nong, Xuejuan; Wei, Wujun; Deng, Yibin

doi:10.1080/16078454.2022.2080427

Cited by 10 publications

(7 citation statements)

References 29 publications

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“…Compared with other regions of Guangxi, the positive rate of the thalassemia gene was higher in northern Guangxi [21]. The positive rates of α, β, and α complex β thalassemia were 18.57%, 9.99%, and 1.18%, respectively, which are similar to the conclusions reported in Baise and southeast Guizhou province [7,20].…”

Section: Discussionsupporting

confidence: 77%

“…In different regions, the carrier rate of thalassemia in the Chinese population var-ies from 1% to 24% [2]. In southern provinces such as Guangdong, Guangxi, and Hainan, the incidence of thalassemia is high [3][4][5][6][7], and there are also differences in the frequency and distribution of thalassemia gene mutations Am J Transl Res 2024;16 (1):51-62 among different ethnic groups [8][9][10]. In the northern part of Guibei, renowned for its tourist cities in China, frequent population movements and intermarriages among various ethnic groups may have induced significant changes in the molecular epidemiological profile of thalassemia in the region, leading to a heightened prevalence rate [11].…”

Section: Introductionmentioning

confidence: 99%

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Genotype analysis of 55,281 cases of thalassemia in northern Guangxi

Zeng

2024

Am J Transl Res

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Objective: To understand the genotype and distribution of thalassemia in northern Guangxi. Methods: The study subjects were 55,281 individuals who came to the Affiliated Hospital of Guilin Medical University for genetic diagnosis of thalassemia from January 2012 to August 2023. All of their household registration was in the precincts of Guibei District and its affiliated counties. Red blood cell parameters and hemoglobin analysis were used for thalassemia screening. Gap-PCR, PCR-reverse dot blot hybridization (PCR-RDB), and multicolor melting curve analysis (MMCA) were used to identify common thalassemia genes. Multiplex ligation-dependent probe amplification (MLPA), Sanger sequencing, and third-generation single-molecule real-time (SMRT) sequencing were employed to identify rare thalassemia genes. Results: Among the 55,281 samples, 16,442 (29.74%) were diagnosed with thalassemia. The detection rates of α, β, and α combined β-thalassemia were 18.57%, 9.99% and 1.18%, respectively. Among ethnical groups, allele mutation frequency of thalassemia was the highest in Zhuang (44.97%), followed by Yao (40.11%), Dong (31.33%), Han (29.85%), Miao (24.31%), and Hui (20.6%). A total of 11,659 alleles (21.09%) of 8 types of α-thalassemia were identified in 55,281 samples, primarily --SEA (53.9%), followed by -α 3.7 (21.3%), including rare alleles: --THAI (0.45%) and HKαα (0.38%). A total of 6367 (11.52%) and 14 types of β-thalassemia alleles were identified, mainly CD41-42 (50.12%), followed by CD17 (22.22%), including rare alleles: β CD37 (0.16%) and Gγ + (Aγδβ) 0 /β N (0.05%). A total of 31 genotypes were detected in 10,264 cases of α-thalassemia, and the main types were --SEA /αα (53.23%), -α 3.7 /αα (19.15%), and -α 4.2 /αα (7.21%). A total of 34 genotypes were detected in 5525 cases of β-thalassemia, and the main types were β CD41-42 /β N (50.53%), β CD17 /β N (21.77%), and β IVS-II-654 /β N (12.16%). A total of 78 gene types were detected in 653 cases of α-and β-thalassemia, and the main types were --SEA /αα, β CD41-42 /β N (18.68%) and -α 3.7 /αα, β CD41-42 /β N (13.02%). There were 580 cases (5.65%) of HbH disease (α 0 /α + ), and 4 cases of Hemoglobin Bart's Hydrops Foetus syndrome (--SEA /--SEA ). In addition, there were 92 cases (1.67%) of intermedia or severe types of β-thalassemia (β 0 /β 0 , β 0 /β + , β + /β + ), including 23 cases of combined α-thalassemia. Among the samples screened negative for thalassemia, 3.7% of them were found to carry thalassemia genes, and 91.35% of the genotypes were α WS α/αα, -α 3.7 /αα, and -α 4.2 /αα. In addition, 40.26% of α WS α/αα, 22.89% of -α 3.7 /αα, and 18.51% of -α 4.2 /αα had no hematological phenotype. Conclusion: The population in northern Guangxi exhibited rich ethnic diversity, with high allelic carrying rates among the Zhuang, Yao and Dong ethnic groups. Thalassemia gene mutations are diverse, encompassing a variety of gene types, with α thalassemia predominating, notably the --SEA /αα gene type. The prevalence of intermedia or severe types of thalassemia is not low...

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Section: Discussionsupporting

confidence: 77%

Section: Introductionmentioning

confidence: 99%

Genotype analysis of 55,281 cases of thalassemia in northern Guangxi

Zeng

2024

Am J Transl Res

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“…Despite the traditional prevention and control of thalassemia carried out in South China, there are still many children born with intermediate or severe thalassemia every year. At present, blood routine analysis, Hb electrophoresis analysis, and common thalassemia gene testing based on PCR-RDB technology were used as traditional technologies to prevent and control thalassemia [22,23]. However, there are still some limitations in the traditional technologies.…”

Section: Discussionmentioning

confidence: 99%

Long-Read Sequencing Identified a Large Novel δ/β-Globin Gene Deletion in a Chinese Family

Zhuang,

Zheng,

Jiang

et al. 2023

Human Mutation

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Objective. Increasingly rare thalassemia has been identified with the advanced use of long-read sequencing based on long-read technology. Here, we aim to present a novel δ/β-globin gene deletion identified by long-read sequencing technology. Methods. Enrolled in this study was a family from the Quanzhou region of Southeast China. Routine blood analysis and hemoglobin (Hb) capillary electrophoresis were used for hematological screening. Genetic testing for common α- and β-thalassemia was carried out using the reverse dot blot hybridization technique. Long-read sequencing was performed to detect rare globin gene variants. Specific gap-polymerase chain reaction (gap-PCR) and/or Sanger sequencing were further used to verify the detected variants. Results. None of the common α- and β-thalassemia mutations or deletions were observed in the family. However, decreased levels of MCV, MCH, and abnormal Hb bands were observed in the family members, who were suspected as rare thalassemia carriers. Further, long-read sequencing demonstrated a large novel 7.414 kb deletion NG_000007.3:g.63511_70924del partially cover HBB and HBD globin genes causing delta-beta fusion gene in the proband. Parental verification indicated that the deletion was inherited from the proband’s father, while none of the globin gene variants were observed in the proband’s mother. In addition, the novel δ/β-globin gene deletion was further verified by gap-PCR and Sanger sequencing. Conclusion. In this study, we first present a large novel δ/β-globin gene deletion in a Chinese family using long-read sequencing, which may cause δβ-thalassemia. This study further enhances that long-read sequencing would be applied as a sharp tool for detecting rare and novel globin gene variants.

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“…Thalassemia was primarily distributed in coastal areas of the Middle East, North Africa, Southeast Asia, Mediterranean, and India (Cao & Kan, 2013). Unusually high prevalence of thalassemia was found in southern provinces of China, particularly in Guangdong, Guangxi, and Yunnan (Gu et al., 2021; Huang et al., 2020; Xu et al., 2022). Meanwhile, a meta‐analysis indicated that the overall prevalence of α‐, β‐, and α + β‐thalassemia in China is 7.88%, 2.21%, and 0.48%, respectively (Lai et al., 2017).…”

Section: Introductionmentioning

confidence: 99%

“…Various molecular techniques have been extensively applied to detect point mutations and large deletions of thalassemia, including reverse dot‐blot hybridization (RDB) (Jiang et al., 2022; Xu et al., 2022), probe melting curve assay (PMCA) (Aliyeva et al., 2018), multiplex ligation‐dependent probe amplification (MLPA) (Chen et al., 2020), and DNA sequencing (Viprakasit & Ekwattanakit, 2018). However, these approaches have been limited by laborious procedures, lower throughput, and high requirements for laboratory personnel.…”

Section: Introductionmentioning

confidence: 99%

Mutation spectrum of thalassemia among pre‐pregnant adults in the Jiangsu Province by capillary electrophoresis‐based multiplex PCR assay

Shao,

Wang,

Zhang

et al. 2023

Molec Gen & Gen Med

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BackgroundThalassemia is a common genetic disorder in southwestern China, and an increasing number of cases from eastern China have been recently reported. Here, we developed a rapid, convenient, and accurate assay to evaluate the mutation spectrum of thalassemia in eastern China.MethodsA carrier screening assay for 61 hotspot variants among HBA1/HBA2 and HBB (OMIM: 141800, 141850, and 141900) genes was developed by SNaPshot/high‐throughput ligation‐dependent probe amplification (HLPA) technology. We used this assay to detect the mutation spectrum of thalassemia in individuals from eastern China and compared with the data collected from literatures focused on southern and northern China for variant distribution.ResultsAmong 4276 tested individuals, 2.62% (112/4276) were α‐thalassemia carriers, with 90 carrying one deletion or mutation and 22 carrying two deletions. 0.40% (17/4276) were β‐thalassemia carriers, and the most common variant of β‐thalassemia was c.126_129delCTTT (29.41%) followed by c.316‐197C>T (23.53%). The genotype distribution in our study was similar to those from southern China populations.ConclusionThe Chinese population from different regions presented comparable mutation spectrum of thalassemia, and the SNaPshot/HLPA technique may serve as a capable assay for a routine genetic test in clinical practice with its accurate, rapid, and inexpensive advantage.

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Prevalence and molecular characterization of common thalassemia among people of reproductive age in the border area of Guangxi-Yunnan-Guizhou province in Southwestern China

Cited by 10 publications

References 29 publications

Genotype analysis of 55,281 cases of thalassemia in northern Guangxi

Genotype analysis of 55,281 cases of thalassemia in northern Guangxi

Long-Read Sequencing Identified a Large Novel δ/β-Globin Gene Deletion in a Chinese Family

Mutation spectrum of thalassemia among pre‐pregnant adults in the Jiangsu Province by capillary electrophoresis‐based multiplex PCR assay

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