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Boozer baby's disease is treatable

Boy has transplant of bone marrow for sickle cell anemia

Carlos Boozer
Carlos Boozer
Laura Seitz, Deseret Morning News

Carlos Boozer is back with his team, the Utah Jazz, now that his year-old son is recuperating at home following a bone-marrow transplant.

Little Carmani had the procedure because of an inherited blood disorder called sickle cell anemia — so named because of the distinctive and incorrect shape of red blood cells. Instead of looking like an upside down Frisbee, the red cells are crescent-shaped, like the old farm tool. Although any race can be affected, the disease is most common among people with African ancestry, followed by those of Mediterranean or Middle Eastern descent.

Sickle cell disease can be inherited only if both parents carry the abnormal gene — and even then, there's only a one-in-four chance a child will have the disease, although he or she may have one copy of the gene (called having sickle cell trait) that can be passed to offspring.

A person is either born with sickle cell disease or not — all children in Utah and most other states are routinely tested at birth — but it's impossible to predict how serious the symptoms are going to be for an individual. The longer someone lives with the disease, the more likely complications will develop, says Dr. Jennifer Wright, a pediatric hematology/oncology specialist at Primary Children's Medical Center.

Wright, who treats sickle cell anemia, spoke about the disease in general, not about Boozer's son, who is not being treated at Primary Children's.

The issue is the hemoglobin, protein found in red blood cells that helps carry oxygen through the body. Normal red blood cells easily roll up and pass through even tiny blood vessels. Sickle cell anemia occurs when abnormal hemoglobin is produced. Its molecules tend to clump, making the red blood cells sticky, stiff and more fragile.

When the cells are sickle-shaped, they can become lodged in small vessels and cause complications, including blocking blood flow and depriving tissue and organs of oxygen they need to survive. The misshapen blood cells are also much less durable and last days instead of the months a normal red blood cell lives, which leads to anemia.

Doctors focus on treating symptoms, Wright says, which include severe pain, dehydration, breathlessness, fatigue, delayed growth and puberty, fever and jaundice.

A bone-marrow transplant can cure the disease, but it's done infrequently and only if the circumstances are right. It's often hard to find a suitable match, it's expensive and the drugs used to kill the existing marrow and pave the way for transplant can themselves be dangerous or even lethal. Some doctors won't transplant from a sibling who has sickle cell trait — the single copy of the defective gene — and in populations like African Americans, where one in 12 carries the gene, the donor pool is small.

The disease may be treated with a medication called hydroxyurea, which encourages the body to make fetal hemoglobin, which creates less of the sickle-shaped hemoglobin. Again, though, there can be side effects, some serious.

It used to be that children with sickle cell didn't survive to adulthood. Now, it's rare when they don't. But while some with sickle cell disease have a normal life-span, for the population as a whole, life-span is somewhat shortened.

Complications of sickle cell disease can be serious. Stroke is probably the most feared, Wright says. And the disease can be painful, thought to be caused by those odd-shaped cells getting caught in the tiny capillaries in bone. Those misshapen cells can also clog up the spleen, and infections are common. Doctors take very seriously fever in someone with the disease and often prescribe preventive antibiotics. As the person gets older, lung problems, including pulmonary hypertension, may develop.

An acute, painful episode is called a crisis, and repeated crises can damage kidneys, lungs, bones, eyes and the central nervous system.

Some crises can be managed with simple pain medicines, rest and extra fluids. Others may require hospitalization for intravenous hydration and strong pain medication. Treatment may include red blood cell transfusions to help deliver oxygen to tissue effectively. Folic acid may be supplemented because it boosts red blood cell production. Researchers are studying the potential of gene therapy.

Wright says there are good things on the horizon. "There are a lot of studies going on for children with sickle cell disease that give us a lot of information and hope. We're becoming more successful in treating it, and although it can be a devastating disease, the outlook's optimistic."