High-Resolution Melting Analysis of the Three Common Nondeletional α-Thalassemia Mutations in the Chinese Population: Hbs Constant Spring, Quong Sze and Westmead

Abstract

α-Thalassemia (α-thal) is one of the most common monogenic diseases worldwide and is widely distributed in southern China. There are two types of this disease at the DNA level: deletional and nondeletional α-thal. Hb Constant Spring [Hb CS, α142, Term→Gln (α2) (α^CSα/αα)], Hb Quong Sze [Hb QS, α125(H8)Leu→Pro (α2) (α^QSα/αα/)] and Hb Westmead [α122(H5)His→Gln (α2) (α¹²²α/αα)] are the three common nondeletional mutations in the Chinese population. In this study, we developed an optimized protocol for identification of the three point mutations by high-resolution melting (HRM) analysis using a LightScanner. We successfully detected all the mutant samples with α^CSα/αα, α^CSα/− −^SEA, α^CSα/-α^3.7, α^CSα/-α^4.2, α^QSα/αα, α^QSα/- -^SEA, α^QSα/-α^4.2, α^QSα/α^QSα, and α¹²²α/αα. High-resolution melting analysis is a time-saving and cost-effective technique, and the method established here could be applied to screen the three common point mutations, especially in individuals whose partners are a carrier of α⁰-thal.

• High-resolution melting (HRM)
• α-Thalassemia (α-thal)
• α-Globin gene
• Point mutation