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) (αCSα/αα)], Hb Quong Sze [Hb QS, α125(H8)Leu→Pro (α2) (αQSα/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 αCSα/αα, αCSα/− −SEA, αCSα/-α3.7, αCSα/-α4.2, αQSα/αα, αQSα/- -SEA, αQSα/-α4.2, αQSα/αQSα, 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.