The spectrum of α-thalassemia mutations in the Kurdish population of Northeastern Iraq

Hemoglobin. 2013;37(1):56-64. doi: 10.3109/03630269.2012.749490. Epub 2012 Dec 7.

Abstract

In an attempt to determine the spectrum of α-thalassemia (α-thal) mutations in the Kurdish population of Northeastern (NE) Iraq, a total of 101 unrelated adults with unexplained hypochromia and/or microcytosis were enrolled. α-Thalasssemia mutations were characterized by gap polymerase chain reaction (gap-PCR), multiplex PCR (m-PCR) and reverse hybridization and sequencing for both α genes. A total of nine α-thal mutations were characterized including four deletional ones: -α(3.7) (rightward), - -(MED-I), -(α)(20.5), -α(4.2) (leftward) and five nondeletional ones: α(polyA1)α, αα(Adana), α(-5 nt)α, α(CS)α and α(polyA2)α. These determinants were arranged in 12 different genotypes, the most frequent of which were: -α(3.7)/αα, - -(MED-I)/αα, -α(3.7)/-α(3.7), α(polyA1)α/αα, αα(Adana)/αα and -(α)(20.5)/αα. This pattern is similar to that reported in Turkey, western (W) Iran, Cyprus and Greece, and to some extent, different from the pattern observed in the Arabian Peninsula.

MeSH terms

  • Adult
  • Genotype
  • Humans
  • Iraq / epidemiology
  • Iraq / ethnology
  • Multiplex Polymerase Chain Reaction
  • Mutation*
  • Polymerase Chain Reaction
  • alpha-Globins / genetics*
  • alpha-Thalassemia / epidemiology
  • alpha-Thalassemia / ethnology
  • alpha-Thalassemia / genetics*

Substances

  • alpha-Globins