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Characterization of Homozygous Hb Setif (HBA2: c.283G>T) in the Iranian Population

Samaneh Farashi1,2, Negin F Garous2, Shadi Vakili2

  • 1a Genetics Research Centre, University of Social Welfare & Rehabilitation Sciences , Tehran , Iran.

Hemoglobin
|November 18, 2015
PubMed

Hemoglobin (Hb) variants are abnormalities resulting from point mutations in either of the two α-globin genes (HBA2 or HBA1) or the β-globin gene (HBB). Various reports of Hb variants have been described in Iran and other countries around the world. Hb Setif (or HBA2: c.283G>T) is one of these variants with a mutation at codon 94 of of the α2-globin gene that is characterized in clinically normal heterozygous individuals. We here report clinical and hematological findings in two homozygous cases of Iranian origin for this unstable Hb variant.

Keywords:
Hb SetifIranhemoglobin (Hb) variantsα-Globin genes

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