Identification of rare hemoglobin variant (Hb Fairfax) causing dominant β-thalassemia phenotype in an Iranian family.
Abstract
Dear Editor, More than 900 hemoglobin (Hb) variants have been reported, and most variants are caused by mutations in the α- or β-globin gene clusters [1]. Clinically, most of hemoglobin variants are asymptomatic, but some variants are unstable, with altered oxygen affinity, or have a thalassemic phenotype (Hb Var database--http://globin. cse.psu.edu/globin/hbvar). Hemoglobin Fairfax is a rare Hb variant, which has been reported only in an African-American child. This hemoglobin results from 15-base-pair tandem duplication of GAGCTGCACTGTGAC sequences inserted between codons 94 and 95, coding an additional Glu-Leu-His-Cys- Asp amino acids [2, 3].
Domains
Human genetics
Origin : Files produced by the author(s)