Prenatal diagnosis of homozygous beta-thalassaemia.
In two pregnancies at risk for homozygous beta+ and beta0 thalassaemia, fetal blood mixed with maternal blood was obtained by placental aspiration and was purified to over 90% purity by differential agglutination with anti-i antibodies. Study of globulin-chain synthesis showed absence of beta-globulin chain in both fetuses. The diagnosis of homozygous beta-thalassaemia was made and was confirmed after the pregnancies were terminated. Thus, the defect in beta-globulin-chain synthesis in homozygous beta-thalassaemia is expressed in utero, and prenatal diagnosis is possible.
D005260:Female; D005312:Fetal Blood / Q000032:analysis; D005914:Globins / Q000096:biosynthesis; D006720:Homozygote; D006801:Humans; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000175:diagnosis* / Q000235:genetics
D005914:Globins