High-resolution melting analysis of the three common nondeletional α-thalassemia mutations in the Chinese population: Hbs Constant Spring, Quong Sze and Westmead.

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(CS)α/αα)], Hb Quong Sze [Hb QS, α125(H8)Leu→Pro (α2) (α(QS)α/αα/)] and Hb Westmead [α122(H5)His→Gln (α2) (α(122)α/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(CS)α/αα, α(CS)α/- -(SEA), α(CS)α/-α(3.7), α(CS)α/-α(4.2), α(QS)α/αα, α(QS)α/- -(SEA), α(QS)α/-α(4.2), α(QS)α/α(QS)α, and α(122)α/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.