[Genotypic and hematological characteristics of 83 β-thalassemia mutation carriers and patients from Henan Province].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics(2022)

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摘要
β-thalassemia is not rare in Henan Province and its characteristics are different from those in high incidence areas, which deserves close attention. The newly discovered HBB: c.128T>G (CD42T>G) has enriched the spectrum of β-thalassemia mutations in China. Above results will also facilitate genetic counseling and prenatal diagnosis of β-thalassemia in Henan Province.
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