Restriction Fragment Length Polymorphism In Egyptian B-Thalassemic Cheldren

Thalassemia is the most common monogenic disease. It isbecoming a real public health problem in Egypt and many developingcountries. Diagnosis of p-thalassemia is based on a combination ofclinical manifestations and a number of laboratory investigations, themost important of which is Hb electrophoresis. Recent advances inmolecular biology have allowed identification of many of themolecular defects in thalassemiaand work is going on to identify moreand more defects.The present study comprised 75 children of whom 50 werediagnosed as having p-thalassemia and 2S were healthy controls. Therewere all subjected to thorough clinical examination and routinelaboratory investigations.Research investigations included:• DNAextraction.• Gel electrophoresis for extracted DNA.• Amplification of components of P-globin gene.• Gel electrophoresis for the amplified product.• Purification of DNA.• Digestionof the amplified productswith restriction enzymes.Reviewing the results of restriction enzyme digestion andcorrelating them with the codon sites we found that the most commonmutation in our patients was the IVS 1-110 (G-A) mutation. IVS-1-6Summary ami Concluslons(T-C) mutations was the second in frequency while the third frequentmutation in our studywas the IVS-I-5 (G-C).Finally we conclude that p-thalassemia is a real public healthproblem and as efforts are paid to improve the well being ofthalassemic patients and the quality of their tife through propermanagement, similar efforts should be directed towards prenataldiagnosis and detection of carriers and proper premarietal counselingin order to makeEgypt like Cyprus”a thalassemia-free zone”.