Hb North York [beta 117(G19)His-->Asp]: a new beta chain hemoglobin variant.
Routine hemoglobin (Hb) analysis identified a new beta chain Hb variant in an Iranian woman, who otherwise had normal hematological indices. Sequence analysis demonstrated that the Hb variant was due to a missense mutation at amino acid codon 117 (CAC>GAC, His-->Asp) of the beta-globin gene.
Waye
John S
JS
Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, ON, Canada. waye@hhsc.ca
Walker
Lynda
L
Nakamura
Lisa M
LM
Eng
Barry
B
McFarlane
Andrew
A
D000328:Adult; D001224:Aspartic Acid; D004252:DNA Mutational Analysis; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006639:Histidine; D006801:Humans; D007492:Iran; D020125:Mutation, Missense; D055544:beta-Globins / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D055544:beta-Globins; D001224:Aspartic Acid; D006639:Histidine; C032181:hemoglobin New York