Article
Case report: Identification of a novel triplication of alpha-globin gene by the third-generation sequencing: pedigree analysis and genetic diagnosis.
Hematology (Amsterdam, Netherlands) - 1 Dec 2023
Chen Yujiao, Xie Tiantian, Ma Minhui, Yang Juan, Lv Yihang, Dong Xudong
Abstract excerpt
BACKGROUND: Thalassemia, a common autosomal hereditary blood disorder worldwide, mainly contains α- and β-thalassemia. The α-globin gene triplicates allele is harmless for carriers, but aggravates the phenotype of β-thalassemia. Therefore, it is particularly crucial to accurately detect the structural variants of α-globin gene clusters. CASE REPORT: We reported a 28-year-old man, the proband, with microcytic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.