PMID: 7334511Dec 1, 1981Paper

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

Journal of Medical Genetics
M FurbettaA 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.

References

Jan 1, 1977·Cytogenetics and Cell Genetics·R TantravahiO J Miller
Feb 1, 1978·The Journal of Pediatrics·H M KoenigY W Kan
Jun 1, 1979·Journal of Medical Genetics·M FrydmanE Elian
Jan 1, 1979·Hemoglobin·M MarinucciF Mandelli
Sep 1, 1978·Clinical Genetics·M H Shokeir
Jan 1, 1978·Hemoglobin·G D Efremov
Jun 1, 1977·Journal of Medical Genetics·F MollicaL Pavone

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