FAMILY MEDICINE® COLUMN
By John C. Wolf, D.O.
Associate Professor of Family Medicine®
Ohio University College of Osteopathic Medicine

[SICKLE CELL NOT JUST AN AFRICAN AMERICAN DISEASE]

Question: My neighbor's child was recently hospitalized because of sickle cell anemia. I really don't understand exactly what this condition is. I know that it is a disease that strikes African Americans, but that is about all I know. Would you explain sickle cell anemia?

Answer: Your statement that African Americans are at greater risk for sickle cell anemia is correct, but other racial and ethnic groups also have an increased chance of inheriting this genetic disorder. This includes Americans of Eastern Mediterranean, Indian, or Saudi Arabian ancestry.

Sickle cell anemia is a condition that is caused by a subtle change in the way the body makes hemoglobin, the blood protein that carries oxygen to the body's cells. The abnormality arises from a mutation in the genes that direct the production of hemoglobin. We all inherit these "hemoglobin genes" from both our mother and father. Because of this, there are two major types of sickle cell anemia: those with a defective hemoglobin gene from one parent and a normal hemoglobin gene from the other, and those with two defective genes - one from each parent.

The health problems produced by these genetic disorders depend upon whether the person has one or two abnormal genes. One abnormal gene causes a condition called sickle cell trait. This occurs in eight to 10 percent of African Americans and is only rarely associated with health complaints. Since sickle cell trait is usually symptomless, it is identified when the doctor orders a blood count. The number of red blood cells is found to be slightly below ideal, a condition called anemia. Some of the red blood cells have an abnormal sickle-shaped appearance because of the defective hemoglobin. This distinctive shape gives the disorder its name.

The presence of two abnormal genes cause a much more serious condition, the one your young neighbor probably has, full-blown sickle cell disease. Fortunately, this more serious condition only occurs in 0.2 percent of African Americans. Individuals with this condition have more pronounced anemia and also have a potential for many other problems. Acute episodes of bone pain caused by blockage of normal circulation by the defective blood cells is called a sickle cell crisis. A severe crisis can produce life threatening anemia, enlargement of the spleen, gallstones, frequent infections, and serious kidney damage. These are just some of the serious health problems that can disrupt the lives of these unfortunate individuals.

There are treatments for the acute complications of sickle cell disease. Some are fairly simple while others are quite complex and costly. Unfortunately, so far there are no cures for the underlying disease that ultimately leads to a shortened life-span. By sharp contrast, those with sickle cell trait have a normal life expectancy, and their greatest problem is usually just the need for genetic counseling before they have children.

For additional information you may want to contact the Sickle Cell Disease Association of America, 3345 Wilshire Boulevard, Suite 1106, Los Angeles, CA 90010-1880 or the Sickle Cell Anemia Web page at http://wellweb.com/INDEX/QSICKLE.HTM.

Family Medicine® is a weekly column. To submit questions, write to John C. Wolf, D.O., Ohio University College of Osteopathic Medicine, Grosvenor Hall, Athens, Ohio 45701.