Article
A novel 15.8 kb deletion α-thalassemia confirmed by long-read single-molecule real-time sequencing: Hematological phenotypes and molecular characterization.
Clinical biochemistry - 1 Oct 2022
Zhong Zeyan, Zhong Guoxing, Guan Zhiyang, Chen Dina, Wu Zhiyong, Yang Kunxiang, Chen Dan, Liu Yinyin, Xu Ruofan, Chen Jianhong
Abstract excerpt
BACKGROUND: Thalassemia is the most frequent recessive Mendelian inherited monogenic disease worldwide, and is characterized by the impaired synthesis of globin chains due to disease-causing variants in α- or β-globin genes. There are many conventional methods to diagnose thalassemia but all of them have limitations. CASE REPORT: We present the case of a 37-year-old female with abnormal values of routine...
Topics
- Female
- Gene Deletion
- Humans
- Multiplex Polymerase Chain Reaction
- Phenotype
- Pregnancy
- alpha-Globins
- alpha-Thalassemia
- beta-Globins
- beta-Thalassemia