Sickle Cell Disease

Sickle Cell Disease is a worldwide health problem that primarily affects people of African descent but also occurs in people of Mediterranean, Asian, and Central and South American heritage. About one in 500 black children is affected, and one in 12 carries the gene for this disease. (Carriers are said to have sickle-cell trait and may at times have mild symptoms of the disease.)

The underlying problem in sickle-cell disease is as light but critical change in hemoglobin, she oxygen-carrying protein within red blood cells. Under certain conditions, “sickle” hemoglobin aggregates into elongated crystals that distort the shape of red cells. These crescent or sickle-shaped cells do not survive as long as normal (round) red cells do, leading to chronic anemia. (This aspect of the disease led to its being called sickle-cell anemia in the past, but this term does not adequately convey the wide variety of medical problems that can result from this condition.) These cells can also obstruct small blood vessels, causing repeated episodes of severe pain, especially, in the abdomen, bones, and joints. Damage or functional problems involving bone, spleen, kidneys, lungs, or other organs may occur. In addition, children with sickle-cell disease are at significant risk of serious infections from certain types of bacteria.

Sickle-cell disease is normally not manifested at birth, and the first symptoms typically do not appear until the latter part of the first year of life. However, infants with this problem can be identified by blood screening after birth. Appropriate immunizations and daily preventive doses of penicillin during the first five years of life can help prevent a variety of infections. While these basic measures substantially reduce the risk of serious disease and mortality during childhood, there is no specific treatment that will normalize the sickle hemoglobin. Therefore, a thorough understanding of this disorder by parents and other family members and ongoing comprehensive medical care – including treatment of pain crises, anemia, infections, and other complications – will be necessary to protect the life and health of a child born with sickle-cell disease.