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We have identified a variant on the β-globin gene in a Chinese female. Sequencing of the HBB gene revealed a Phe→Leu substitution at codon 42[β42(CD1) Phe→Leu, HBB:c.129T &gt; A] which has been named Hb Suqian for where the proband was born.

Fist Detection of Hb Suqian[β42(CD1) Phe→Leu, HBB:c.129T > A] in Han Chinese