Molecular Characterization of Glucose 6-Phosphate Dehydrogenase (G6PD) Deficiency in Egypt
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common of all clinically significant enzyme defects, not only in hematology, but in human biology as a whole. More than 400 million people worldwide are affected by this enzymopathy. In Egypt, G6PD deficiency is a public health problem, affecting 2 to 9% of Egyptian males. Nearly 400 biochemically distinct variants were identified and more than 130 molecular mutations or combinations of mutations of the G6PD gene account for these variants. However, Data on genotypic variants of G6PD deficiency in Egypt are scarce. While a number of molecular diagnostic techniques are currently available at several clinical laboratories in Egypt. This collaborative research project, to be carried out by medical and biotechnology researchers, will introduce, for the first time, molecular diagnosis of a hematological disorder at MUST and aims at establishing a reference laboratory for the molecular diagnosis of G6PD deficiency in Egypt.
Duration: 2 Years
Starting date: September, 2006