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Summary: This paper reports a case of b-thalassaemia major whose molecular diagnosis was achieved by using modern methods of molecular genetics. This example demonstrates the strategy we chose to detect b-thalassaemia mutations in the Republic of Serbia in order to complete molecular screening in our population and to make prenatal diagnosis in pregnancies at risk. The analysis of genomic DNA isolated from the blood of patient affected with thalassaemia major is carried out by the methods: RDB (reverse dot blot) and ARMS (amplification refractory mutation system). It is shown that the patient is a compound heterozygote for two b-thalassaemic mutations: b+IVSI-110 and b+IVSI-6.

Rapid characterization of b-thalassemia mutations by reverse dot blot and allele-specific pcr analysis