Prenatal diagnosis of thalassaemia major resulting from Lepore/ beta-thalassaemia genotype

J Med Genet. 1981 Dec;18(6):476-8. doi: 10.1136/jmg.18.6.476.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Female
  • Fetal Blood / metabolism
  • Genetic Counseling
  • Globins / metabolism
  • Humans
  • Pregnancy
  • Prenatal Diagnosis
  • Thalassemia / diagnosis*

Substances

  • Globins