Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants
Anping Xu,
Mingyang Li,
Yinghui Ye
et al.
Abstract:IntroductionMutations in the hemoglobin subunit delta (HBD) gene (MIM#142000) are associated with decreased levels of the Hemoglobin A2 (Hb A2) fraction. We aimed to examine the prevalence of HBD gene mutations and summarize their characteristics in the Chinese population.MethodsIndividuals who exhibited Hb A2 levels below 1.8%, with or without Hb A2 variant peaks, were chosen for further investigation. Hemoglobin analysis was conducted using capillary electrophoresis. Common α and β‐thalassemia in China were … Show more
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