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

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 incorporat...

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Bibliographic Details
Published in:Journal of medical genetics 1981-12, Vol.18 (6), p.476-478
Main Authors: Furbetta, M, Angius, A, Falchi, A M, Tuveri, T, Tannoia, Pertosa, A P, Cao, A
Format: Article
Language:English
Subjects:
Female
Fetal Blood - metabolism
Genetic Counseling
Globins - metabolism
Humans
Pregnancy
Prenatal Diagnosis
Thalassemia - diagnosis
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Summary: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.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.18.6.476