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Hemoglobin
international journal for hemoglobin research
Volume 38, 2014 - Issue 2
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A New Hemoglobin Variant: Hb Henan [β90(F6)Glu → Gln; HBB: c.271G < C]

Wu-Juan CaiPrenatal Diagnostic Center, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University Guangzhou, GuangdongPeople’s Republic of China
,
Xing-Mei XiePrenatal Diagnostic Center, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University Guangzhou, GuangdongPeople’s Republic of China
,
Yong-Ling ZhangPrenatal Diagnostic Center, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University Guangzhou, GuangdongPeople’s Republic of China
,
Ru LiPrenatal Diagnostic Center, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University Guangzhou, GuangdongPeople’s Republic of China
,
Can LiaoPrenatal Diagnostic Center, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University Guangzhou, GuangdongPeople’s Republic of China
&
Dong-Zhi LiPrenatal Diagnostic Center, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University Guangzhou, GuangdongPeople’s Republic of ChinaCorrespondence[email protected]
Pages 127-129 | Received 29 Jul 2013, Accepted 14 Oct 2013, Published online: 29 Jan 2014
 
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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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