We used the method of relative quantitative homologous fragments to analyze α1 and α2 genes. 23900 samples were analyzed. A total of 201 individuals with ααα, ααα, and HKαα genes were identified. The carriage rates of these genes in southern Guangxi were 0.39%, 0.29% and 0.16%, respectively. We also collected positive samples from 18 families, and hematology data analysis confirmed that if these individuals carried the β-thalassemia allele at the same time, would lead to further imbalance of the ratio of α-chain to β-chain, and then produce varying degrees of anemia.
The individuals carrying ααα, ααα, and HKαα genes suffer harms related to β thalassemia, and these variations are not included in the detection range of conventional gene analysis reagents; therefore, these individuals are at risk. Prenatal diagnosis institutions could pay more attention to carriage of copy number variations of α-globin, so as to give more accurate prenatal advice to patients.
Copyright © 2020. Published by Elsevier B.V.