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 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.
D005260:Female; D005312:Fetal Blood / Q000378:metabolism; D005817:Genetic Counseling; D005914:Globins / Q000378:metabolism; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000175:diagnosis*
D005914:Globins