A new hemoglobin variant: Hb Henan [β90(F6)Glu → Gln; HBB: c.271G < C].
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.
Prenatal Diagnostic Center, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University , Guangzhou, Guangdong , People's Republic of China.
Wu-Juan
WJ
Cai
Xing-Mei
XM
Xie
Yong-Ling
YL
Zhang
Ru
R
Li
Can
C
Liao
Dong-Zhi
DZ
Li
D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D018698:Glutamic Acid / Q000235:genetics; D005973:Glutamine / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D055544:beta-Globins / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C000593193:hemoglobin Henan; D005973:Glutamine; D018698:Glutamic Acid