Sickle cell anemia affects up to 80,000 Americans

By CARREN BERSCH

Feeling Fit Correspondent

The National Institutes of Health (NIH) report that sickle cell disease is the most commonly inherited blood disorder in the U.S., affecting up to 80,000 Americans.

The disease occurs in 1 in 500 African-Americans; 1 in 1,000 to 1,400 Hispanic-Americans; and globally, millions whose ancestry includes Africa, Mediterranean countries (i.e., Greece, Turkey, and Italy), the Arabian Peninsula, India, and Spanish-speaking regions (i.e., South and Central America, and parts of the Caribbean).

For the afflicted and their caregivers, the facts about sickle cell disease are all too familiar.

For those with no experience with the disease, NIH describe it as a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells.

Sickle cell disease is caused by the distortion of the hemoglobin S molecules, which changes red blood cells into a sickle or crescent shape. The signs and symptoms usually begin in early childhood when the cells begin to "sickle."

Genetic research is making new treatments possible.

According to Eric T. Lubiner, DO, one of the physicians at the Port Charlotte office of Florida Cancer Specialists, "Genetic testing is important in infancy, so that a bone marrow transplant can be considered." He noted that such transplants are not used for adults.

When these misshapen red blood cells get stuck in small blood vessels, they deprive bodily tissues and organs of oxygen. Serious complications can follow (e.g., anemia, shortness of breath, fatigue, delayed growth and development in children).

Sufferers experience painful episodes and, sometimes, organ damage. One-third of adults experience pulmonary hypertension that can lead to heart failure.

Lubiner said, "In adults, who are now past the age of being able to get a bone marrow transplant, it is sometimes helpful to be placed on a pill called Hydrea, which increases hemoglobin F (fetal hemoglobin), and has been shown to prevent blood cells from sickling. It reduces the number of crises in a certain time frame by about half. "

The basic gene malfunction that causes this disease is this: Hemoglobin has four protein subunits -- two alpha-globin and two beta-globin. The "HBB" gene contains instructions for making the beta-globin, but mutations in this gene cause sickle cell. A different type of mutation that causes unusually low levels of beta-globin creates beta thalassemia.

"Unlike sickle cell, thalassemia or 'Mediterranean anemia,' rarely causes crises. You can have thalassemia all of your life and never have any crises," Lubiner said. "My suggestion to anyone who is not aware of his or her heredity is to be careful about genetic components. If anyone suspects he or she is a carrier of the abnormal gene, it is most important to be tested."

If marriage and a family are part of future plans for a carrier, Lubiner said, "obtain some follow-up with a blood specialist or a hematologist."

On a promising note, Lubiner said, "The latest treatment proposed is to actually insert a special 'virus' into a child's broken genes to fix them. This would allow the cells to repair themselves. Currently, this technology has been only tested in mice."

To learn more, go to http://www.sicklecelldisease.org. The Sickle Cell Disease Association of America has as its quest informing sickle cell patients of progress in finding treatments, and to educate people who are unfamiliar with the disease (also see www.sicklecelldisease.org).