G6PD deficiency in Syria : identification of the Mediterranean mutation amongst hemolytic anemia patients

Abstract EN

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked genetic disorder.

More than 400 million individuals are affected globally.

The most common clinical manifestations are neonatal jaundice and acute hemolytic anemia.

Numerous mutations have been described in the G6PD gene, many exhibit region-specific distributions.

The G6PD Mediterranean mutation is frequently found in the Mediterranean region.

However, in Syria no previous studies were conducted on G6PD deficiency disorder on its molecular basis.

The aim of this study was to screen for the Mediterranean mutation amongst hemolytic anemia patients, as a preliminary search to determine the frequency of G6PD mutations in the Syrian society.

A total of 265 children with hemolytic signs presented to Children's University Hospital in Damascus, were enrolled in this study.

Genomic DNA was extracted from 197 patients for genotyping, and the Mediterranean mutation has been determined by PCR-RFLP method.

Our result showed that 30% of cases have a positive family history for G6PD deficiency.

The Male to female ratio was 1.6:1.

Mediterranean mutation was detected in 164 case (83%) with an allele frequency of 0.65.

High prevalence of Mediterranean mutation in our study strongly suggests the need for nationwide screening to determine the prevalence of the deficiency in the Syrian society.

Further expanded studies are needed to evaluate other mutations in the G6PD gene.