تقصي الطفرة المتوسطية p.Ser188Phe في جين G6PD لدى مرضى فقر الدم الانحلالي

الملخص EN

Mediterranean (p.Ser188Phe) mutation is the most common mutation amongst G6PD deficiency patients in the Mediterranean region and South Europe.

It causes a severe hemolysis and a massive occurrence of hemolytic crisis in blood.

Most patients do not show clear clinical symptoms unless they are subjected to a causative agent (fava bean or aspirin).

Since there were no previous studies verifying the frequency of common mutations in G6PD gene amongst Syrian patients.

this study aimed to investigate the existence of Mediterranean mutation in the G6PD gene amongst male patients suffering from hemolytic anemia, and determine its frequency in Syrian population using PCR-RFLP technology .The frequency of Mediterranean mutation in the sample study (54 patient) was 85.18%; 46 patients were found to exhibit the mutation while the remaining 8 patients did not show the mutation studied.

We conclude that the Mediterranean p.Ser188Phe mutation is common amongst hemolytic anemia in Syrian population.