Screening for mutations in the α-globin genes leading to abnormal hemoglobin variants with high resolution melting analysis.

Background: alpha-Thalassemia is one of the Most commonly inherited single-gene disorders in southern China. It is important to identify non-deletional alpha-thalassemia in areas where alpha-thalassemia is prevalent, since non-deletional HbH disease (--/alpha(T)alpha or --/alpha alpha(T)) is caused by the interaction of a non-deletional alpha-thalassemia with alpha-thalassemia-1 trait (--/alpha). In this study, we developed an optimized molecular protocol for screening for alpha-globin gene mutations and validated the feasibility of using it as a rapid detection method. Methods: An approach based on high-resolution melting (HRM) analysis was used. A total of 74 samples, including 54 abnormal alpha-chain samples and 20 control samples, were tested. Results: All of the 54 samples with point mutations at the exons 1, 2 or 3 of the alpha-globin genes, including 33 non-deletional alpha-thalassemia, were successfully detected. Conclusions: HRM has the potential to become an efficient, rapid screening method for non-deletional alpha-thalassemia.