Molecular Characterization of α- and β-Thalassaemia Among Children From 1 to 10 Years of Age in Guangxi, A Multi-Ethnic Region in Southern China

He, Sheng; Li, Dongming; Shang, Yue; Huang, Xinghua; Zhou, Chaofan; Chen, Biyan; Zuo, Yangjin; Chen, Faqin; Wei, Hongwei

doi:10.3389/fped.2021.724196

Cited by 8 publications

(11 citation statements)

References 26 publications

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“…What’s more, we found two carriers with both α-thalassemia and β-thalassemia, and the rate was 1.9%. Consistent with previous reports, the most prevalent genotype is - SEA /αα in α-thalassemia, accounting for 83.6% of all α-thalassemia genotypes ( Figure 3 ) ( Lai et al, 2017 ; He et al, 2021 ; Peng et al, 2021 ; Zhuang et al, 2021 ). As for β-thalassemia, β IVS−II−654 /β is the most common genotype, accounting for 48% of all β-thalassemia genotypes ( Figure 4 ).…”

Section: Resultssupporting

confidence: 91%

The prevalence and genetic disorders spectrum of thalassemia among breast cancer patients in Jiangxi province, China

Ding

Huang²,

Jiang³

et al. 2022

Front. Genet.

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Background: Thalassemia is a common inherited hematological disease with genetic disorders characterized by imbalanced synthesis of the globin chains. Due to the improvement of treatment methods, patients with thalassemia can survive for a long time. Therefore, it is not uncommon for patients with thalassemia suffering from malignant tumors. However, there are quite few reports on thalassemia patients complicated with breast cancer. Herein, we try to investigate the prevalence and genetic disorders spectrum of thalassemia in patients with breast cancer.Methods: Blood routing tests and serum ferritin analysis were conducted in 1887 breast cancer patients treated in the department of radiation oncology during 1 April 2020 and 30 March 2022. The suspected thalassemia carriers with small mean corpuscular volume (MCV), mean corpuscular hemoglobin content (MCH) or mean corpuscular hemoglobin concentration (MCHC) but the concentration of serum ferritin within normal limits were further investigated by polymerase chain reaction (PCR) and flow through hybridization gene chip to detect common mutations of α-globin and β-globin genes using Thalassemia Geno Array Diagnostic Kit. The prevalence and genetic mutation spectrum of thalassemia among breast cancer patients were analyzed.Results: Four hundred and eighty-nine suspected thalassemia carriers were detected by complete blood cell counts and serum ferritin analysis among 1887 breast cancer patients. One hundred and seven cases (5.7%) were identified as carriers of thalassemia, of which 55 cases (51.4%) were α-thalassemia, 50 cases (46.7%) were β-thalassemia, and 2 cases (1.9%) were co-inheritance of α-thalassemia and β-thalassemia simultaneously. In α-thalassemia, the most prevalent genotype is -SEA/αα; as for β-thalassemia, βIVS−II−654/β is the most common genotype. The degree of anemia is more severe in β-thalassemia than in α-thalassemia.Conclusion: This is the first comprehensive molecular epidemiological investigation on thalassemia among breast cancer patients. Our data indicated that thalassemia was not uncommon in breast cancer patients. The physicians should have the knowledge to avoid misdiagnosis as iron deficiency anemia.

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Section: Resultssupporting

confidence: 91%

The prevalence and genetic disorders spectrum of thalassemia among breast cancer patients in Jiangxi province, China

Ding

Huang²,

Jiang³

et al. 2022

Front. Genet.

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“…However, it was the most common mutation in Wuhan (41.2%) ( 16 ), Fujian (41.2%) ( 30 ), and Hunan (33.7%) ( 27 ). β CD17 was detected in 1.5% of β-thalassemia cases in the southern part of Hainan, which was lower than that in other provinces of southern China, such as Guangdong ( 12 ), Guangxi ( 18 , 19 , 23 ), Yunnan ( 20 , 22 ), and Sichuan ( 13 ). It is the most common mutation in Yunan ( 20 ), Guizhou ( 31 ), and Baise (Guangxi Province) ( 23 ).…”

Section: Discussionmentioning

confidence: 76%

“…Of the 6,924 thalassemia-positive subjects, 83.9% were α-thalassemia mutation carriers, 5.3% were β-thalassemia mutation carriers, and 10.7% were both α- and β-thalassemia mutation carriers. The results revealed that the carrier frequency was higher than those in previous reports in other provinces of China, such as Guangdong (11.6%) ( 12 ), Sichuan (3.4%) ( 13 ), Dongguan (Guangdong) (47.4%) ( 14 ), Chongqing (7.8%) ( 15 ), Wuhan (57.3%) ( 16 ), Jiangxi (50.3%) ( 17 ), Guangxi (50.1%) ( 18 ), Guangxi (67.0%) ( 19 ), Yunnan (31.9%) ( 20 ), and Hubei (34.9%) ( 21 ), but lower than those described in Yunan (84.2%) ( 22 ), Baise (Guangxi) (92.5%) ( 23 ), and Yulin (Guangxi) (87.1%) ( 24 ). This difference was probably due to the screening strategy.…”

Section: Discussionmentioning

confidence: 99%

“…-α 3.7 and -α 4.2 deletions were the most common deletions in the southern part of Hainan. However, the -- SEA deletion was the most common α-thalassemia genotype in the southern region of China, such as Guangdong ( 14 , 25 ), Guangxi ( 18 , 19 , 23 , 24 , 26 ), Yunnan ( 20 , 22 ), Sichuan ( 13 ), Jiangxi ( 17 ), Hubei ( 16 , 21 ) and Hunan Province ( 27 ). Wang et al ( 11 ) reported that -- SEA /αα was identified in 39.1% of α-thalassemia mutation carriers in Hainan.…”

Section: Discussionmentioning

confidence: 99%

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Molecular Spectrum, Ethnic and Geographical Distribution of Thalassemia in the Southern Area of Hainan, China

Gao

et al. 2022

Front. Pediatr.

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BackgroundThalassemia is one of the most common genetic diseases in southern China. Accurate population frequency data regarding the occurrence and distribution of thalassemia are important for designing appropriate prevention strategies for thalassemia. This study aims to reveal the molecular spectrum, ethnic and geographical distribution of thalassemia in the southern area of Hainan Province, China.MethodsA total of 9813 suspected carriers of thalassemia were screened for genetic analysis by using the PCR-reverse dot blot hybridization method targeting three known deletions of α-thalassemias (--SEA, -α3.7, and -α4.2), three nondeletional mutations of α-thalassaemias (αCS, αQS, and αWS) and the 17 most common mutations of β-thalassaemias in the Chinese population.ResultsApproximately 6,924 subjects were genetically diagnosed as thalassemia carriers or patients, including 5812 cases of α-thalassemia (83.9%), 369 cases of β-thalassemia (5.3%), and 743 cases of α-composite β-thalassemia (10.7%). A total of 21 distinct genotypes were identified among the 5,812 α-thalassemia carriers, -α4.2/αα, -α3.7/αα, and -α3.7/-α4.2 were the most common α-thalassemia genotypes. The most frequent β-thalassemia genotype was βCD41−42/βN, with a notable proportion of 69.6%, followed by the β−28M/βN, βIVS−II−654/βN, βCD71−72/βN, βE/βN, and βCD17/βN genotypes. In addition, 37 genotypes were detected among the 743 cases of both α- and β-thalassemia mutations. The α-thalassemia genotypes were most commonly found in the Li people, who accounted for 73.5% of α-thalassemia carriers. The β-thalassemia genotypes were most commonly identified in the Han people, who accounted for 59.4% of β-thalassemia carriers. Among the subjects carrying both α- and β-thalassemia variations, only three ethnic minorities were identified, including the Li, Han, and Miao people, accounting for 82.0, 17.4, and 0.7%, respectively.ConclusionsOur study indicates that there is high genetic heterogeneity, geographical and ethnic differences in thalassemia in populations in the southern area of Hainan Province. These findings will be helpful in guiding genetic counseling and prenatal diagnosis of thalassemia in Hainan Province.

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“…In our study, NGS was applied for thalassemia screening at a cost of $10 per sample. In total, 56 thalassemia mutations, including 48 rare mutations were identi ed, among which, only 23 mutations would have been detected using traditional detection methods, such as RDB and gap-PCR (20), with the remaining 33 mutations being missed. In other words, 4.010% (795/19,827) of the population will be missed or misdiagnosed using traditional screening methods.…”

Section: Discussionmentioning

confidence: 99%

Next-generation sequencing analysis of the molecular spectrum of thalassemia in Southern Jiangxi, China

Yang

Luo²,

et al. 2023

Preprint

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BACKGROUND: Thalassemia is an extremely prevalent monogenic inherited blood disorder found in southern China. It is important to comprehensively understand the molecular spectrum of thalassemia in an area of such high prevalence of thalassemia before taking appropriate actions for the prevention and treatment of this disorder. Herein, we explored the clinical feasibility of using next-generation sequencing (NGS) for large-scale population screening to illustrate the prevalence and spectrum of thalassemia in Southern Jiangxi. METHODS: Blood samples collected from 136,312 residents of reproductive age in Southern Jiangxi were characterized for thalassemia by NGS. A retrospective analysis was then conducted on blood samples determined to be positive for thalassemia. RESULTS: In total, 19,827 (14.545%) subjects were diagnosed as thalassemia carriers, and the thalassemia prevalence rate significantly varied by geographical region (p < 0.001). A total of 40 α-thalassemia genotypes including 21 rare genotypes were identified, with --SEA/αα being the most prevalent genotype. 42 β-thalassemia genotypes including 27 rare genotypes were identified, with the most common mutation IVS-II-654 (C>T) accounting for 35.257% of these β-thalassemia genotypes. Furthermore, 74 genotypes were identified among 608 individuals with combined α- and β-thalassemia. Notably, most individuals with rare thalassemia mutations had mildly abnormal hematologic parameters including microcytic hypochromia. CONCLUSIONS: Our findings demonstrate the great heterogeneity and diverse spectrum of thalassemia in Southern Jiangxi, emphasizing the importance and necessity of persistent prevention and control of thalassemia in this region. Additionally, our findings further suggest that NGS can effectively identify rare mutations and reduce the misdiagnosis rate of thalassemia.

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Molecular Characterization of α- and β-Thalassaemia Among Children From 1 to 10 Years of Age in Guangxi, A Multi-Ethnic Region in Southern China

Cited by 8 publications

References 26 publications

The prevalence and genetic disorders spectrum of thalassemia among breast cancer patients in Jiangxi province, China

The prevalence and genetic disorders spectrum of thalassemia among breast cancer patients in Jiangxi province, China

Molecular Spectrum, Ethnic and Geographical Distribution of Thalassemia in the Southern Area of Hainan, China

Next-generation sequencing analysis of the molecular spectrum of thalassemia in Southern Jiangxi, China

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