Sickle cell's threat to adults: For those carrying chronic blood disease

As director of the Adult Sickle Cell Program at Mount Sinai Hospital, Patricia Shi devotes 60% of her time to treating adult patients with sickle cell disease.

Shi is board-certified in transfusion medicine and hematology.

Who's at risk?

Most adults with sickle cell disease have been receiving care since childhood, but some may discover the disease only as adults or during pregnancy. Even without symptoms, the disease can progress silently, so it's important to be screened if you're in a high-risk group.

"People of African descent are the group at highest risk, with 1 in 12 African-Americans carrying the trait and about 1 in 400 with the disease," says Shi. "Sickle cell disease also affects people whose ancestors came from India and the Caribbean, the Middle East, South and Central America, and the Mediterranean."

There are three major subtypes of sickle cell disease. "Fifty percent of patients have inherited the sickle cell mutation from both parents," says Shi, "and 30% have inherited the sickle cell gene mutation from one parent and a hemoglobin C mutation from the other parent."

The remainder have inherited one sickle cell mutation along with a beta-thalassemia hemoglobin mutation. "People who have inherited one copy of the sickle cell mutation and one normal hemoglobin gene don't have sickle disease," says Shi.

"But they are carriers, so they can pass the gene on to their children." (For more info, check out last week's column on sickle cell anemia in children.) Sickle cell disease changes the structure of hemoglobin, the protein in red blood cells that carries oxygen.

"The red cells get rigid and sickle-shaped under low oxygen conditions," says Shi. "This causes blood vessel blockage." One of the biggest challenges of treating sickle cell disease is helping patients transition from pediatric to adult care. "A lot of patients fall off the map," says Shi. "They go off their parents' insurance and have to get their own."

Because treating pediatric sickle cell is often an intensive process, these patients tend to depend a lot on their parents, and it can be hard for parents to let them take over their own care.

"This transition may happen as late as age 22, rather than 18," says Shi.

Signs and symptoms

Sickle cell disease shows up in adult patients in several ways. "Adults experience severe pain episodes that can occur anywhere in the body," says Shi. "They usually affect the leg and arm bones, the chest, abdomen and back."

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source: nydailynews