A new approach for the antenatal diagnosis of β-thalassaemia: a double labelling immunofluorescence microscopy technique

Publisher Website
Google Scholar
Abstract
A new approach to the antenatal diagnosis of .beta.-thalassemia major (homozygous .beta.-thalassemia) was developed. Using rhodamine-labeled antibodies directed against .gamma.-globin, fetal erythrocytes can be identified in fetal blood samples contaminated with maternal cells, and using fluorescein-labeled antibodies directed against .beta.-globin, the presence of .beta.-chains (and thus Hb-A) may be determined in the same cells by double labeling immunofluorescence microscopy. The results obtained using this technique on blood samples from fetuses at risk for .beta.-thalassemia major show that if fetal .beta.-chains are detected immunochemically the fetus is normal or heterozygous for .beta.-thalassemia, and > 85% of the fetuses unaffected by .beta.-thalassemia major may be identified in this way. The technique is rapid, applicable to small numbers of fetal erythrocytes heavily contaminated with maternal cells and eliminates the necessity of determining chain synthesis ratios in those cases where .beta.-chains are detected immunochemically.