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A feasibility study in two Mediterranean populations showed that prenatal diagnosis of beta-thalassaemia with a limited number of synthetic oligonucleotide probes would have been possible in about 70% of cases. To provide a comprehensive programme of prenatal diagnosis for the thalassaemias it would be necessary, in most populations, to combine fetal DNA analysis with fetal blood sampling and globin-chain synthesis studies.

Type

Journal article

Journal

Lancet

Publisher

Elsevier: Lancet

Publication Date

17/03/2016

Volume

2

Pages

345 - 7