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Abstract
SUMMARY AND CONCLUSIONS
Thalassemia is the most common monogenic disease. It is becoming a real public health problem in Egypt and many developing countries. Diagnosis of ?-thalassemia is based on a combination of clinical manifestations and a number of laboratory investigations, the most important of which is Hb electrophoresis. Recent advances in molecular biology have allowed identification of many of the molecular defects in thalassemia and work is going on to identify more and more defects.
The present study comprised 75 children of whom 50 were diagnosed as having ?-thalassemia and 25 were healthy controls. There were all subjected to thorough clinical examination and routine laboratory investigations.
Research investigations included :
• DNA extraction.
• Gel electrophoresis for extracted DNA.
• Amplification of components of ?-globin gene.
• Gel electrophoresis for the amplified product.
• Purification of DNA.
• Digestion of the amplified products with restriction enzymes.
Reviewing the results of restriction enzyme digestion and correlating them with the codon sites we found that the most common mutation in our patients was the IVS 1-110 (G-A) mutation. IVS-1-6 (T-C) mutations was the second in frequency while the third frequent mutation in our study was the IVS-1-5 (G-C).
Finally we conclude that ?-thalassemia is a real public health problem and as efforts are paid to improve the well being of thalassemic patients and the quality of their life through proper management, similar efforts should be directed towards prenatal diagnosis and detection of carriers and proper premarietal counseling in order to make Egypt like Cyprus “a thalassemia-free zone”.