Prenatal Diagnosis of Inherited Hematologic Diseases (Sickle Cell Anemia).

摘要

To facilitate the antenatal diagnosis of sickle cell anemia,new analytic methods have been developed and tested on the blood of fetuses provided by therapeutic abortion and on red cells recovered from amniotic fluid provided by amniocentesis. To be satisfactory for analysis of fetal material, a method must be sensitive,specific,and suitable for microscale operation. Two methods satisfying these criteria are polyacrylamide gel isoelectric focusing,and radioimmunoassay. Radioimmunoassay is now feasible because an antiserum specific for HbS has been obtained by immunization of goats,and cross-reacting the antiserum so obtained with HbA. For precipitation of antigen-antibody complexes,rabbit antigoat gamma globulin antiserum has been prepared and titrated. For fetal genotyping,an HbA-specific antiserum is needed. Compared to isoelectric focusing,radioimmunoassay provides 1000-fold greater sensitivity and an independent method of identification.