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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].
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https://hal-riip.archives-ouvertes.fr/pasteur-00750569
Contributor : Mohammad Hamid Connect in order to contact the contributor
Submitted on : Monday, November 11, 2013 - 7:00:07 AM
Last modification on : Wednesday, October 14, 2020 - 4:16:11 AM

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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, Springer Verlag, 2011, 90 (3), pp.349-51. ⟨10.1007/s00277-010-1003-4⟩. ⟨pasteur-00750569⟩

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