High prevalence of thalassemia with a novel α-thalassemia mutationin in Baoan populations in Guangdong province, China

Yu, Yan; Yang, Zhi; H, Yu; Sun, Ruliang; Zhu, Yuanfang; Guo, Feifei

doi:10.1016/j.ejogrb.2020.10.010

Cited by 2 publications

(1 citation statement)

References 5 publications

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“…Gilad et al also found the -α 3.7 and --MED genotype accounts for 70.6% of α-thalassemia deletion type in 895 mutated alleles in Jewish, ArabMuslim and South East Asia populations. 26 The composition ratio of α-TS and TT has been reported as 86.71% by Xuan et al in 2017, 27 some similar studies also showned the composition ratio of α-TS and TT data in Baoan 28 and Dongguan 29 region are 96.47% and 96.90% respectly. Actually, Guangdong has included "blood routine and hemoglobin electrophoresis" of thalassemia screening project into the government-subsidized routine obstetric examination for pregnant women.…”

Section: Discussionmentioning

confidence: 83%

Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China

Xian

Wang

et al. 2022

Clin Appl Thromb Hemost

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Introduction: About 2% of the population in the world are carriers of the thalassemia gene. Thalassemia is highly prevalent in Southern China, and traditional clinical testing methods would cause missed diagnosis of partial static thalassemia. Here, we reviewed and summarized a set of simple and clinically feasible thalassemia detection protocols adopted by the Prenatal Diagnosis and Reproductive Center of our hospital. Methods: From January 1, 2015, to December 31, 2020, 31 512 peripheral blood samples and 3828 prenatal samples were collected in our study. All the peripheral blood samples were performed through thalassemia screening by routine blood tests and hemoglobin electrophoresis and gene detection. The prenatal diagnosis would be implemented for the fetus if the parents were carriers of the same type of thalassemia. Results: A total of 6137 (19.48%) cases were diagnosed as thalassemia, in which 4749 (15.07%) were α-thalassemia, 1196 (3.80%) were β-thalassemia and 192 (0.61%) were co-inheritance of α- and β-thalassemia. For prenatal samples, 3160 (82.55%) cases were diagnosed as thalassemia, in which 2021 (52.80%) were α-thalassemia, 997 (26.05%) were β-thalassemia and 142 (3.71%) were co-inheritance of α- and β-thalassemia. In addition, we also found five novel mutations, including NC_000016.9:g.223681-227492del3812; HBA1: c.301-31_301-24delCTCGGCCCinsG; HBA2: c.95+7C>T for α-thalassemia and HBB: c.263_276delCACTGAGTGAGCTG; HBB: c.315+143G>A for β-thalassemia. Conclusion: The present study updates the epidemiological characteristics and mutation spectrum of thalassemia in Southern China and demonstrated five novel mutations. Our research provides a reference for clinical diagnosis and treatment, prenatal diagnosis, or reproductive genetic counseling for patients with thalassemia in Guangdong.

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Section: Discussionmentioning

confidence: 83%

Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China

Xian

Wang

et al. 2022

Clin Appl Thromb Hemost

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Investigation of the Distribution of Thalassemia in Children in Jiangxi Province, the People’s Republic of China

Wang

et al. 2022

Hemoglobin

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High prevalence of thalassemia with a novel α-thalassemia mutationin in Baoan populations in Guangdong province, China

Cited by 2 publications

References 5 publications

Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China

Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China

Investigation of the Distribution of Thalassemia in Children in Jiangxi Province, the People’s Republic of China

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