Expression of the beta-thalassemia gene in the first trimester fetus

摘要: To determine whether beta-thalassemia can be detected in the fetus, blood was obtained from abortuses of normal mothers and with trait. The red cells were incubated radioactive leucine globin chains analyzed by radiochromatography. Two independent methods utilized to correct results for contamination maternal beta-chain, corrected beta/gamma ratios compared a previously established range fetal synthetic similar measurements pure cells. In erythroid three fetuses trait, ratio two. third had 0.04 at 10 1/2 weeks, 50% reduction, consistent other fetuses, derived parents both whom also studied. One 0.029 8 65% essentially zero 11 highly suggestive homozygous beta-thalassemia. Although further experience will needed distinguish heterozygous states reliably, it now appears that gene is expressed first trimester. Therefore these data suggest antenatal diagnosis becoming an attainable goal.