Sickle-cell anemia is an inherited blood disorder, occurring almost exclusively in black people, in which the normally round red blood cells are transformed into crescentic, or sickle-shaped, cells that are less able to transport needed oxygen. The disease is chronic, marked by fatigue, breathing difficulty on exertion, swollen joints, attacks of extreme illness, complications from other diseases, and shortened life. In the past, half of all victims died by the age of 20 and few survived past 40. With new technology and forms of treatment, the outlook is much better, but sickle-cell anemia remains a chronic debilitating disease.

Cause

The deformation of the red blood cells occurs because of the presence of defective hemoglobin (the iron-containing compound in the red blood cells that carries oxygen). It occurs when part or all of the body is not getting enough oxygen. Because of their hooked shapes, the blood cells tend to tangle together and pile up, temporarily clogging tiny blood vessels and slowing circulation. Tissue formerly nourished by the clogged blood vessels becomes starved for oxygen and may die. The anemia (deficiency of red blood cells) that results from the accelerated breakdown of defective red blood cells not only weakens the body but increases oxygen deficiency, which results in more "sickling" of the cells.

The disease occurs in about 1 of every 330 African Americans. About one in ten is a carrier of the defective gene for sickle-cell anemia but has no symptoms and is not affected by the disease. However, if two carriers conceive a child together, the risk that their child will be afflicted by sickle-cell anemia is one in four. The risk that the child will be a carrier is one in two. Both the carrier state and the active state of the disease can be established by a routine blood test.

Symptoms

In half of all victims, symptoms of sickle-cell anemia begin between the ages of six months and two years. Among the first signs of the disease is unusual swelling of the fingers and toes. The bones of the hands and feet thicken, and clumping of sickle cells may affect the bone marrow, where new blood cells are produced.

Youngsters are especially subject to "sickle-cell crises," which are characterized by severe pain in the abdomen, joints, bones, and muscles due to lack of oxygen. These crises may last from four days to several weeks and commonly occur eight to ten times a year before the age of ten. (They may occur less often in later years, however.) Signs of a sickle-cell crisis include paleness of the lips, tongue, and palms; lack of energy; sleepiness and difficulty in awakening; irritability; pain; and a temperature of 104 degrees Fahrenheit (or a temperature over 100 degrees Fahrenheit that lasts for at least two days).

Thickening of the heart muscle; enlargement of the heart, liver, and spleen in children; heart murmurs; and gallstones are common. The heartbeat is usually rapid. Children with the disease are usually small for their age. Adults may have narrow shoulders and hips, a barrel chest, a curved spine, long arms and legs, and an elongated skull.

Treatment

At present, there is no cure for the disease. Treatment includes giving painkillers, making the patient as comfortable as possible, and treating problems as they occur. These problems include severe anemia, which may require a blood transfusion, and frequent infections, which occur because of immune-system impairment. The drug hydroxyurea has shown promise in treating sickle-cell disease. This medication is thought to work by increasing the concentration of a different type of hemoglobin in the red blood cells.

Prevention

Avoiding cold, fatigue, and other stress may help to reduce the number of sickle-cell crises. Screening programs are available for those who wish to know whether they carry the gene for sickle-cell anemia. Those who have the gene can obtain genetic counseling. There is no risk of disease in offspring if only one parent is a carrier, but each child will have a one-in-two chance of being a carrier.



This information is solely for informational purposes. IT IS NOT INTENDED TO PROVIDE MEDICAL ADVICE. Neither the Editors of Consumer Guide (R), Publications International, Ltd., the author nor publisher take responsibility for any possible consequences from any treatment, procedure, exercise, dietary modification, action or application of medication which results from reading or following the information contained in this information. The publication of this information does not constitute the practice of medicine, and this information does not replace the advice of your physician or other health care provider. Before undertaking any course of treatment, the reader must seek the advice of their physician or other health care provider.