Prenatal diagnosis of thalassaemia major resulting from Lepore/ beta-thalassaemia genotype. Issue 6 (December 1981)

• Record Type: Journal Article
• Authors: Furbetta, M; Angius, A; Falchi, A M; Tuveri, T; Tannoia, ; Pertosa, A P; Cao, A
• Is Part Of: Journal of medical genetics. Volume 18:Issue 6(1981)
• Page Start: 476
• Page End: 478
• Publication Date: 1981-12
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.18.6.476
• Languages: English
• ISSNs: 1468-6244

Abstract

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.