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A new hemoglobin variant: Hb Henan [β90(F6)Glu → Gln; HBB: c.271G < C]
Wu-Juan Cai1, Xing-Mei Xie, Yong-Ling Zhang
1Prenatal Diagnostic Center, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University , Guangzhou, Guangdong , People's Republic of China.
Abstract:
We have identified a new β chain hemoglobin (Hb) variant in a Chinese individual. Sequencing of the β-globin gene revealed a mutation in exon 2 at nucleotide 271, which results in the replacement of a glutamic acid by glutamine at codon 90 [β90(F6)Glu → Gln; GAG > CAG; HBB: c.271G > C] that we have named Hb Henan.
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