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.

Hemoglobin Barts hydrops fetalis syndrome is the most severe and generally fatal clinical phenotype of α-thalassemia. We diagnosed a fetus at 23-weeks gestation with having hydrops fetalis, by ultrasound. At 32 weeks, intrauterine death was detected. Molecular studies revealed that the fetus had the hemoglobin Barts hydrops fetalis syndrome due to homozygosity for the Mediterranean α-thalassemia deletion. This clinical phenotype is generally rare in the Eastern Mediterranean, and this is the first report of this syndrome from Iraq. Techniques for molecular characterization became available only very recently in this country, in a diagnostic setting. Thus, the detection of further cases might be expected in future.