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Published: February, 2010; Vol 6, Num 9

 

Sickle Cell Disease: Steps toward a Cure

A new medical study offers hope to sufferers of sickle cell disease, a debilitating blood condition that frequently targets African Americans. Researchers at the National Institutes of Health (NIH) say bone marrow transplants may be the silver bullet for what has long been considered an incurable illness.

An inherited condition found disproportionately among people of African ancestry, sickle cell disease causes extreme pain, organ damage and reduced life expectancy. In the United States, more than 70,000 people have sickle cell disease. Another two million – one in every 12 African Americans – have the sickle cell trait. They are carriers of a single gene for the disease and can pass this along to their children, although they themselves are not ill. A person develops sickle cell disease when the gene is received from both parents. Sickle cell disease also appears in ethnic groups of Mediterranean, Middle Eastern and South and Central American descent.

Sickle cell disease is a disease of the red blood cells. People with this illness have abnormal hemoglobin, the protein that carries oxygen to the body. This atypical hemoglobin causes the red blood cells to stiffen into a sickle shape that does not easily pass through the blood vessels. When these sickle cells get stuck, blood supply is cut off leading to pain and organ damage. Sickle cells also break down more quickly than normal red blood cells, which leads to anemia. Children with sickle cell disease do not grow as fast as their peers and enter puberty later. Children and adult sufferers tire easily and are prone to infections and stroke. Vision problems are another complication of sickle cell disease.

Previously, only children with sickle cell – because their bodies were not as ravaged by the condition – were candidates for the high-risk, bone marrow transplantation procedure. Graft-versus-host disease, in which the body rejects the new bone marrow, is a common and often fatal transplant complication. Children who are not as ill as adults have a better prospect for warding off this and other transplant hurdles. However, researchers have been adjusting the treatment, which includes radiation and immune suppressant drugs.  In December, 30 months after receiving bone marrow transplants, ten adult patients who underwent the procedure were alive, and nine of them were considered cured.

A blood test can determine if a person is either a carrier of the sickle cell trait or has a form of the disease. When both parents have the sickle cell trait, a 25 percent chance exists that the child will have the disease and a 50 percent chance that the child will have the trait. Prenatal tests can determine the baby’s circumstance. Health care providers can direct couples to local sickle cell resources, including genetic counselors who arrange testing and discuss the outcomes.

Sickle cell research continues. Health care providers, sickle cell patients and family members interested in joining NIH bone marrow transplant studies may call 301-402-6466 for more information. More information about sickle cell research trials is available at the NIH website.

[Janet Lubman Rathner]