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Prenatal diagnosis of thalassaemia major resulting from Lepore/ beta-thalassaemia genotype.
  1. M Furbetta,
  2. A Angius,
  3. A M Falchi,
  4. T Tuveri,
  5. Tannoia,
  6. A P Pertosa,
  7. A Cao

    Abstract

    Antenatal diagnosis was carried out in a pregnancy at risk for beta-thalassaemia major/intermedia, resulting from the Lepore/ beta-thalassaemia genotype, by globin chain synthesis analysis on fetal blood obtained by placentocentesis at 19 weeks' gestation. As there was no radioactive incorporation in the beta-region, the fetus was considered to be a Lepore/ beta-thalassaemia genetic compound and aborted on parental request. After abortion, cord blood analysis confirmed the absence of beta-chain radioactivity.

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