IDENTIFICATION OF NOVEL ASIAN INDIAN AND JAPANESE MUTATIONS CAUSING BETA-THALASSEMIA IN THE EGYPTIAN POPULATION

beta-thalassaemia is a major health problem in Egypt, It has been esti mated that of the 1.5 million live births, 1000 children with beta-tha lassaemia major are born annually. Although the available treatment ha s increased the life expectancy of patients, it is still unsatisfactor y and represents a significant drain on the country's resources. Natio nal screening and prenatal diagnosis programmes can be provided in Egy pt once the spectrum of beta-thalassaemia mutations has been identifie d within the Egyptian population. We have examined 16 DNA samples with 21 beta-thalassaemia mutations that remained unidentified in a study of 54 patients reported by Rady and colleagues in 1996. Using the poly merase chain reaction and single strand conformation analysis we ident ified the following changes: frameshift (FS) codon (CD) 8/9 (+G), 4 FS CD 29 (-G) and 2 novel mutations in exon I (15 CD 22 A-C and 1 FS CD 28-C). Tn addition, a silent, probably polymorphic mutation, CD 17 G-A was present in all chromosomes.