A New Hemoglobin Variant: Hb Henan [beta 90(F6)Glu -> Gln; HBB: c.271G > C]

作者：Cai, Wu-Juan; Xie, Xing-Mei; Zhang, Yong-Ling; Li, Ru; Liao, Can; Li, Dong-Zhi^*

来源：Hemoglobin, 2014, 38(2): 127-129.

DOI：10.3109/03630269.2014.880062

• Hemoglobin (Hb) variant
• hemoglobinopathy
• Hb Henan

We have identified a new beta chain hemoglobin (Hb) variant in a Chinese individual. Sequencing of the beta-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 [beta 90(F6)Glu -> Gln; GAG>CAG; HBB: c.271G>C] that we have named Hb Henan.

• 出版日期2014
• 单位广州市妇女儿童医疗中心; 广州医科大学