Prenatal diagnosis of beta-thalassaemia and sickle-cell anaemia. Experience with 24 cases.
Prenatal diagnosis of beta-thalassaemia and sickle-cell anaemia was attempted in 24 pregnancies. Adequate amounts of fetal blood (for studying globin-chain synthesis) were obtained in 22 cases. 4 cases of homozygous beta-thalassaemia and 2 of sickle-cell anaemia were diagnosed. The difference between the homozygous and non-homozygous states was well defined. Fetal bleeding from cord puncture and amnionitis resulted in the loss of three fetuses, and methods to avoid these complications are being devised. It is concluded that prenatal diagnosis of disorders of beta-globin synthesis is feasible.
D000755:Anemia, Sickle Cell / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D001800:Blood Specimen Collection; D004906:Erythrocyte Count; D005069:Evaluation Studies as Topic; D005260:Female; D005312:Fetal Blood / Q000032:analysis; D005313:Fetal Death / Q000209:etiology; D005315:Fetal Diseases / Q000209:etiology; D005914:Globins / Q000032:analysis / Q000096:biosynthesis; D006470:Hemorrhage / Q000209:etiology; D006720:Homozygote; D006801:Humans; D010920:Placenta / Q000098:blood supply; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics
D005914:Globins