The Spectrum of α-Thalassemia Mutations in the Kurdish Population of Northeastern Iraq

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^polyA1α, αα^Adana, α^{−5 nt}α, α^CSα and α^polyA2α. 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^polyA1α/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.

• α-Thalassemia (α-thal)
• –α^3.7
• – –^MED-I
• Kurds
• Iraq