Identification of rare hemoglobin variant (Hb Fairfax) causing dominant β-thalassemia phenotype in an Iranian family.

Mohammad Taghi Akbari (1, 2) , Mohammad Hamid (3) , Mina Izadyar (4)

1 Department of Medical Genetics, Faculty of Medical Sciences
2 Tehran Medical Genetics Laboratory
3 Molecular Medicine Division, Biotechnology Research Center
4 Department of Pediatric Hematology, Markase Tebbi Koodakan (Children Medical Center)

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].

Mots clés: hemoglobin variant; β-thalassemia phenotype; Iranian family

Domaines: Génétique humaine

Mohammad Taghi Akbari, Mohammad Hamid, Mina Izadyar. Identification of rare hemoglobin variant (Hb Fairfax) causing dominant β-thalassemia phenotype in an Iranian family.. Annals of Hematology, 2011, 90 (3), pp.349-51. ⟨10.1007/s00277-010-1003-4⟩. ⟨pasteur-00750569⟩