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

Abstract excerpt

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...

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