New Hope for People with Sickle Cell Anemia

Sickle Cell is a genetic mutation that was harmless but beneficial in the people who resided in the tropical regions of the world where the parasite-borne disease malaria was prevalent. One copy of this mutation prevented them from catching malaria. Children who inherited two copies of the mutation, however, were born with Sickle cell anemia.

Sickle cell anemia is a painful disease that affects the red blood cells giving them an abnormal shape and is curable only in rare instances. Normal hemoglobin A is soft and round in shape. The abnormal hemoglobin S is hard and sickle-shaped, making it hard to move through the smaller blood vessels. This causes a blockage in the vessels, and makes the disease painful and deadly. Not only does the blockage cause the patient pain, it deprives them of the oxygen that the red blood cell delivers to the organs. This can cause death if the blockage occurs in the heart, brain, or one of the other vital organs because it deprives these organs of the blood and oxygen it needs to operate efficiently.

The pain that is caused by the sickle cell blockage is called a "crisis." Each crisis has the potential to cause major damage to vital organ tissue. The frequency of the crises has a potential of causing death to the anemic.

The person becomes anemic when the body recognizes that the cells are abnormal and destroys them faster than they can reproduce. This causes a shortage in red blood cells, producing the symptoms of fatigue and susceptibility to infections.

In 1986 a breakthrough occurred when an NHLBI-sponsored study discovered that young children who took penicillin twice a day had much lower rates of S. pneumoniae infection than the group that took a placebo.

In 1987, an expert panel convened by the NHLBI recommended all infants be screened for the sickle cell trait, and those that were infected with the trait would begin to receive the treatment at the age of three.

It was discovered that infants were born with fetal hemoglobin that blocked the cells from sickling until their bodies started to produce adult hemoglobin to replace the fetal hemoglobin. An infant's body usually stops producing the fetal hemoglobin at about 6 months.

Symptoms of a painful crisis may be relieved by giving the patients fluids and painkillers. Hydroxyurea is the only approved treatment currently available to prevent painful crises from occurring. A study of the use