Growing Up With Sickle Cell


Doctors are increasingly able to control sickle-cell disease. The hereditary condition affects roughly 100,000 Americans, and can shorten life expectancy, though less so than in the past. People with sickle-cell disease have a genetic mutation that causes red blood cells to be rigid and misshaped, leading to excessive clotting. This means chest and joint pain and anemia, and greater risk of hypertension and stroke. The cells are also unusually fragile, with less than a quarter the life cycle of ordinary red blood cells, leaving people who have the disease unusually prone to infection. The rigidity and fragility are due to fibers that form in the cells of people who carry the mutation.

Advanced treatment techniques for sickle-cell disease are causing a good problem, that more and more children and adolescents with sickle-cell are becoming adults with sickle-cell, and are living with the condition as adults for longer. In studies, patients at the point of transition, who are becoming adults, lean more heavily on emergency rooms than pediatric patients do; researchers are looking into ways to get them the health care they need, without relying on emergency facilities that aren’t necessarily equipped to provide the kind of care these patients require.

One reason the condition has become more treatable is a finding that bone marrow transplants—a surgical procedure that can be a treatment of last resort in severe or intractable cases—don’t require the donor and recipient to be an exact match. Donor marrow produces healthy red blood cells to replace the misshapen ones, but transplantation can be hard on the immune system. Treatments for milder cases are drugs, including an anti-depressant, that manage the symptoms and effects but don’t fix the cell production.

Newer research has found a way to get the patient’s own boy to produce more correctly-shaped red blood cells. In sickle-cell patients, the problem is in the adult cells. Fetal cells—those present at birth—are shaped normally. The genetic mutation affects only the adult cells. The chemical that regulates which type of cell is produced is a common one with a variety of functions in the body, but scientists may have found a way to target it only in red blood cells, leaving it alone elsewhere.

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