Selected Testing of Newborns for Sickle Cell Disease

There are two main reasons for sickle cell testing: the early detection of those with sickle cell disease and the detection of the carrier state, sickle cell trait. The mortality of the severe forms of sickle cell disease is particularly high during the first 5 years of life. Recent data have shown that early detection of sickle cell disease and institution of expert medical care and follow-up may reduce early mortality and morbidity. The ability to detect most forms of sickle cell disease in the newborn period has made the goal of preventive care theoretically possible. The purpose of the detection of the carrier state, sickle cell trait, is less clear. Sickle cell trait has almost no clinical importance to the individual. Although a few case reports have suggested that sickle cell trait may not be a benign condition, most experts agree that sickle cell trait does not significantly alter health or disease. The main purpose of carrier testing is for genetic counseling. Mass screening of African Americans for sickle cell trait was advocated in the 1960s. However, no data have shown that results of such screening have had any impact on reproductive planning. Ideally, sickle cell testing should provide the following results. All newborns with various forms of sickle cell disease should be diagnosed by 3 months of age, before the onset of clinical problems. All heterozygotes for the βs-globin gene, or the genes for other hemoglobinopathies that may combine with βs gene to produce clinically significant forms of sickle cell disease, should be aware of the relevant genetic information at childbearing age.