In Syria, several genetic disorders, including ?-thalassemia, familial Mediterranean fever (FMF), glucose-6-phosphate dehydrogenase deficiency, sickle-cell disease, hemophilia, inborn errors of metabolism, are common. Familial Mediterranean fever (MEFV) gene mutations and the genotype?phenotype correlation were investigated. The carrier rate in the Syrian population for MEFV mutations is 17.5%. The most frequent mutation was M694V, followed by V726A, E148Q, M680I (G/C), and M694I mutations. Rare mutations (R761H, A744S, M680I (G/A), K695R, P369S, F479L and I692del) were also detected in the patients. M694V was associated with the severe form of the disease. ?-Thalassemia is endemic in Syria. The prevalence rate of ?-thalassemia trait in high risk groups is 7% (1-1.5 million carriers) and the estimated number of affected patients is 7785. The various beta-thalassemia mutations are being characterized. Moreover, rare genetic disorders (such as cystic fibrosis) are also being investigated. Premarital carrier screening and prenatal diagnosis is offered to the affected families in order to prevent those genetic disorders.

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