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Cao A et al. – This paper review the most important aspects of carrier detection procedures, genetic counselling, population screening and prenatal diagnosis of beta–thalassemias. Prenatal diagnosis is accomplished by mutation analysis on PCR–amplified DNA from chorionic villi. Future prospects include automation of the process of mutation–detection, simplification of preconception and preimplantation diagnosis and fetal diagnosis by analysis of fetal cells in maternal circulation.


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