Antenatal diagnosis of thalassaemia major.
- 11 February 1978
- Vol. 1 (6109), 350-353
- https://doi.org/10.1136/bmj.1.6109.350
Abstract
Haemoglobin synthesis was studied in fetal blood samples obtained at 17 to 20 weeks' gestation in 22 women at risk of carrying a fetus with homozygous beta-thalassaemia. A presumptive diagnosis of homozygous beta-thalassaemia was made in four cases, and the pregnancy was terminated. An inconclusive answer was obtained in one case, and the patient also chose to have her pregnancy terminated. Two fetuses were lost as a result of the procedure. Of the remaining 15 pregnancies, 13 proceeded to term and two to 36 weeks; in each case a normal infant or one heterozygous for beta-thalassaemia was delivered. Current efforts should be directed towards improving the blood sampling technology so that fetal blood sampling can be used widely in those countries where thalassaemia is a major problem.Keywords
This publication has 14 references indexed in Scilit:
- PRENATAL DIAGNOSIS OF β-THALASSÆMIA AND SICKLE-CELL ANÆMIAThe Lancet, 1977
- Prenatal Diagnosis of HemoglobinopathiesNew England Journal of Medicine, 1976
- Prenatal diagnosis of homozygous beta-thalassaemia.1975
- ADULT HEMOGLOBIN SYNTHESIS IN THE HUMAN FETUSAnnals of the New York Academy of Sciences, 1974
- INTRAUTERINE DIAGNOSIS OF THALASSEMIAAnnals of the New York Academy of Sciences, 1974
- Concentration of Fetal Red Blood Cells From a Mixture of Maternal and Fetal Blood by Anti-i Serum—An Aid to Prenatal Diagnosis of HemoglobinopathiesBlood, 1974
- Haemoglobin Synthesis during Human Foetal DevelopmentNature, 1973
- Globin Synthesis in Thalassaemia: An in vitro StudyNature, 1965
- Human Embryonic HemoglobinsCold Spring Harbor Symposia on Quantitative Biology, 1964
- Die photometrische Auswertung nichttransparenter Papier-ElektropherogrammeKlinische Wochenschrift, 1957