News Note

Sickle Cell Anemia and Cultural Factors

Today, more patients with sickle cell anemia reach adulthood despite the recurrent crises that eventually affect every organ. Nonetheless, the prevalence of the trait has not risen above 1 in 500 in the African-American population, according to Gregory J. Kato, MD, a pediatric hematologist at Johns Hopkins University in Baltimore. Prevalence has not increased mainly because persons who have the disease have a lower reproduction rate caused by complications in pregnancy. Complications include a higher rate of miscarriage, and sickling of blood cells can cause blockage in small blood vessels. If the placenta is affected, the child will have a lower birthweight and therefore a reduced chance for survival.

Dr. Kato noted that cultural factors may affect the prevalence of a genetic disease as much as the genome does. On Sardinia, ß-thalassemia major, a transfusion-dependent disorder that Sardinians perceive as offering a low quality of life, has been reduced to rates of near zero after introduction of genetic and prenatal testing. African Americans, on the other hand, see sickle cell anemia as providing a near-normal quality of life and therefore reject prenatal testing. Medical personnel only see patients with acute sickle cell anemia, which affects their own views of the value of prenatal testing, Kato noted.