Genetic counseling in sickle cell anemia: experiences with couples at risk

Beginning in 1970, a cohort of 74 sickle trait-carrying couples was identified who risked producing children with sickle cell anemia or other serious hemoglobinopathies. They were counseled concerning the disease and their risk, and their initial reactions, their stated intentions concerning birth control and childbearing, and their subsequent childbearing histories were documented. Initial responses to the risk information varied widely, and stated intentions of birth control or childbearing did not accurately predict subsequent childbearing. Among 25 couples for whom there were complete childbearing data, there were 31 pregnancies with 13 affected children prior to counseling. After counseling, there were 25 pregnancies resulting in 10 affected children. The majority of the subsequent pregnancies occurred in the group who had not borne children or an affected child before counseling. In young couples, concern for producing a child with sickle cell anemia is often offset by a strong desire to have children regardless of risk.