Article
Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants.
International journal of laboratory hematology - 1 Dec 2023
Xu Anping, Li Mingyang, Ye Yinghui, Li Liping, Ma Minjing, Wu Shang Ying, Ji Ling
Abstract excerpt
INTRODUCTION: Mutations 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. METHODS: Individuals who exhibited Hb A2 levels below 1.8%, with or without Hb A2 variant peaks, were chosen for further investigation....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.