Newborns are routinely tested for sickle-cell anemia. If you think your child might be at risk—if you and your partner are both carriers, if at least one of you has the condition, or if one or both of you don’t know—you might want to consider having the testing done even earlier; genetic testing in utero can detect sickle-cell anemia as early as the tenth week of pregnancy. Early diagnosis is absolutely essential for your child to receive possibly life-saving treatment, so it’s best to be prepared.
The most widely used test, which is generally administered as part of ordinary screening of new-born infants, is called hemoglobin electrophoresis. It uses the electrical charge of red blood cells to look for abnormalities.
Treatments are available to help manage crises and deal with potential complications. In childhood, doctors frequently administer oral antibiotics to help fight pneumonia and similar infections. These conditions can be particularly dangerous, and even fatal, in infants with sickle cell.
Infancy and childhood, before the blood vessels have fully grown, is the most dangerous time. However, sickle cell requires lifelong medical care. Sickle-cell patients need plenty of folic acid, a B vitamin, to stimulate production of red blood cells.
Blood transfusions can also help maintain proper red blood cell levels. However, too many transfusions can lead to iron overload, a buildup of excess iron that can lead to diabetes, organ damage, sexual dysfunction, heart failure and increased pain. If you receive blood transfusions to help manage your sickle cell disease, ask your doctor for a simple blood test called a serum ferritin test, used to determine the level of iron in the body.
A cancer drug called hydroxyurea, taken daily, can reduce the frequency of sickle-cell crisis. It stimulates the production in adult patients of a type of hemoglobin normally found in newborns that actively resists sickling.
The possibility of a cure exists in the form of bone marrow transplants. Stem cells from the donor replace the patients bone marrow and manufacture healthy blood cells. However, the procedure is risky, the recovery time is long, and the donor has to be a good genetic match for the recipient, so transplantation is only recommended in severe cases.
Gene therapy and nitric oxide to keep blood cells from forming clumps are being investigated as potential treatments or cures. Although research is promising, no firm conclusions have been reached.