Background: Glucose-6-Phosphate dehydrogenase (G6PD) is a key enzyme of the pentose monophosphate pathway,\r\nand its deficiency is the most common inherited enzymopathy worldwide. G6PD deficiency is common among Iraqis,\r\nincluding those of the Kurdish ethnic group, however no study of significance has ever addressed the molecular basis\r\nof this disorder in this population. The aim of this study is to determine the prevalence of this enzymopathy and its\r\nmolecular basis among Iraqi Kurds.\r\nMethods: A total of 580 healthy male Kurdish Iraqis randomly selected from a main regional premarital screening\r\ncenter in Northern Iraq were screened for G6PD deficiency using methemoglobin reduction test. The results were\r\nconfirmed by quantitative enzyme assay for the cases that showed G6PD deficiency. DNA analysis was performed on\r\n115 G6PD deficient subjects, 50 from the premarital screening group and 65 unrelated Kurdish male patients with\r\ndocumented acute hemolytic episodes due to G6PD deficiency. Analysis was performed using polymerase chain\r\nreaction/restriction fragment length polymorphism for five deficient molecular variants, namely G6PD Mediterranean\r\n(563 C?T), G6PD Chatham (1003 G?A), G6PD A- (202 G?A), G6PD Aures (143 T?C) and G6PD Cosenza (1376 G?C),\r\nas well as the silent 1311 (C?T) mutation.\r\nResults: Among 580 random Iraqi male Kurds, 63 (10.9%) had documented G6PD deficiency. Molecular studies\r\nperformed on a total of 115 G6PD deficient males revealed that 101 (87.8%) had the G6PD Mediterranean variant and\r\n10 (8.7%) had the G6PD Chatham variant. No cases of G6PD A-, G6PD Aures or G6PD Cosenza were identified, leaving 4\r\ncases (3.5%) uncharacterized. Further molecular screening revealed that the silent mutation 1311 was present in 93/95\r\nof the Mediterranean and 1/10 of the Chatham cases.\r\nConclusions: The current study revealed a high prevalence of G6PD deficiency among Iraqi Kurdish population of\r\nNorthern Iraq with most cases being due to the G6PD Mediterranean and Chatham variants. These results are similar to\r\nthose reported from neighboring Iran and Turkey and to lesser extent other Mediterranean countries.
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