Referrals and Resources

This specialist or subspecialist can be a medical geneticist; a genetics counselor with expertise in hemoglobinopathies; or a hematologist, pediatrician, nurse or other medical specialist with expertise in the inheritance of hemoglobinopathies and training in the genetic counseling process.

If possible, all pertinent laboratory tests should be performed prior to genetic counseling. These include neonatal screening results (initial and confirmatory), DNA and/or other hemoglobinopathy testing. Additional testing may be recommended after evaluation of family history. These tests may be ordered immediately after counseling or may need to be arranged individually, depending on the family’s medical resources.

Counseling should include discussion of autosomal recessive mode of inheritance, provision of accurate recurrence risk information to parents of an affected child, evaluation of family history and discussion of the importance of testing other family members at risk for a hemoglobinopathy or for being a carrier.

Accurate recurrence-risk counseling for parents of a child identified with sickle cell disease or trait requires knowledge of the parents’ carrier status. Testing of potential carriers requires a CBC and hemoglobin separation by electrophoresis, isoelectric focusing, and/or high performance liquid chromatography (HPLC), including accurate quantitation of HbF and HbA2 if the MCV is borderline or decreased.

Solubility testing, which may be called Sickledex, Sickleprep and Sicklequik, is not adequate for hemoglobinopathy screening of other family members and should never be used. These tests do not separate sickle cell disease from sickle cell trait and they may miss other clinically significant hemoglobin variants that interact with hemoglobin S. Hemoglobin electrophoresis should be used for screening.

Emphasize the importance of continuing medical follow up and health maintenance strategies, which can help decrease the number and severity of medical complications.

This should be done for all future pregnancies as well.