Thomas Loew, M.D., University of Iowa Children's Hospital pediatric oncologist at University of Iowa Hospitals and Clinics, says that all 50 states now provide newborn screening that includes hemoglobinopathies. "This is the most efficient mechanism to diagnose children with sickle cell anemia and related disorders. Iowa has been performing such newborn screening since 1988. Identification of children with disease in the newborn period also allows for early intervention to prevent the most common cause of death, infections. Sickle cell anemia, itself, accounts for about 70 percent of all patients with a hemoglobinopathy."

Individuals either from the "malaria belt" or with ancestors from the "malaria belt" are at risk of sickle cell anemia says Loew. "A common misconception is that individuals must only come from Africa to be at risk. This is not true. Sickle cell anemia and related diseases are found not only in individuals of African descent, but also the Middle East, India, Southeast Asia, China and the Philippines. All of these areas have a common bond, the presence of malaria.

"The most common symptoms of sickle cell disease are painful crises caused by occlusion of blood vessels by the abnormally shaped (sickle) red blood cells. Other complications include strokes, severe anemia, lung occlusion, and increased risk of infection. Long-term complications include kidney disease and increased risk of clotting," he says.

Patients have varying episodes of symptoms. There is wide variety and severity of symptoms from patient to patient.

As noted above, sickle cell anemia accounts for about 70 percent of all patients with hemoglobinopathies. The remaining 30 percent of patients usually have a milder form of disease. There are genetic factors that can lessen the severity of sickle cell anemia as well."

"For example," he says, "some people with sickle cell disease continue to make an increased amount of fetal hemoglobin during their lifetime. These individuals usually have a milder form of the disease.

"The psychosocial aspects of sickle cell anemia can be devastating. Many patients are unable to maintain employment because of frequent painful crises and hospitalizations. Social and professional relationships are adversely affected for the same reason. Physical chronic conditions include kidney disease, strokes, and a shortened life span (although this is improving)," Loew says.

Current treatments still include symptomatic treatment for painful crises, hydration and analgesia. Hydroxyurea is commonly used in adolescents and adults. There is an ongoing National Institutes of Health trial reviewing hydroxyurea use in children. Hydroxyurea increases the amount of fetal hemoglobin produced in the red blood cells, thus lessening the severity of symptoms. Other therapies include the use of transfusions. There are several symptomatic treatments currently being evaluated to try and lessen the severity of sickle cell anemia or its complications. These include the use of aspirin to prevent strokes and the use of medications to keep sickle red blood cells better hydrated, thus reducing their tendency to form the sickle shape.

"There is no cure yet. Current efforts include the advancement of gene therapy and the use of bone marrow transplantation in qualified patients. Bone marrow transplantation requires a family member be an appropriate donor. This does not occur in many families," he says.

For more information:

University of Iowa Children's Hospital

Thomas Loew, M.D.

American Sickle Cell Anemia Association

Sickle-cell Clinical Trials