Molecular Characterization of α-Thalassemia in the Dohuk Region of Iraq
2009; Taylor & Francis; Volume: 33; Issue: 1 Linguagem: Inglês
10.1080/03630260802626053
ISSN1532-432X
AutoresNasir Al‐Allawi, Ameer I.A. Badi, Hasham Imanian, Nooshin Nikzat, Jaladet Jubrael, Hossein Najmabadi,
Tópico(s)Erythrocyte Function and Pathophysiology
ResumoThe molecular basis of α-thalassemia (α-thal) has been addressed by several studies from the eastern Mediterranean region, but not from Iraq. To address this issue, we studied 51 individuals with unexplained hypochromia and/or microcytosis, as well as nine patients with documented Hb H disease from the Dohuk region in northern Iraq. We used multiplex gap-polymerase chain reaction (gap-PCR), reverse hybridization, and sequencing for this purpose. It was found that the most common genotypes in those with unexplained hypochromia and/or microcytosis were −α3.7/αα, followed by − −MED-I/αα, then −α3.7/−α 3.7, respectively, detected in 84.3% of the above individuals. Other genotypes identified sporadically were −α4.2/αα, αpoly A1α/αα (AATAAA>AATAAG), αAdanaα/αα [Hb Adana, codon 59 (Gly→Asp) or HBA1:c.179G>A], and αEvanstonα/αα [Hb Evanston, codon 14 (Trp→Arg) or HBA1:c.43 T>C]. Three cases (5.88%) remained uncharacterized even after sequencing. All nine Hb H cases carried the −α3.7/− −MED-I genotype. Such findings are rather different from those in other eastern Mediterranean populations, particularly with relevance to an Hb H molecular basis.
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