During the mid-trimester, when most antepartum genetic studies are performed, diagnosis of fetal hemoglobinopathy by umbilical blood sampling was technically difficult and often unreliable. Using technologies first developed for amniocentesis, chromosomal material from the unborn fetus is dissected using enzymes obtained from bacteria. Known samples of hemoglobin S DNA material in globin genes can be used for controls. Genetic analysis can identify both homozygous hemoglobin S disease and heterozygous hemoglobin S carriers. Family linkage analysis, combined with technology from RFLP's has made diagnosis of alpha and beta-thalassemia feasible.
Ample literature supports the validity of either treatment protocol of being effective and safe.
Patients with hemoglobinopathies should have Folic acid supplementation in excess of that provided in prenatal vitamins. Mg of Folic acid daily should be provided as a separate supplement, in addition to the 1000 Mg of Folic acid commonly found in prescription prenatal vitamins. Patients with hemoglobinopathy should not be given iron supplementation. The increased rate of hemolysis in patients with hemoglobinopathy provides a rapid turnover of the patient's iron stores. Iron supplementation for patients with hemoglobinopathies places them at risk for hemachromotosis and excess iron deposition.