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...
Topics
- Male
- Female
- Humans
- Adult
- beta-Thalassemia
- Pedigree
- alpha-Globins
- Reproducibility of Results
- Genotype
- alpha-Thalassemia
- Mutation