By Glinda Dames-Fincher, MT (ASCP)

SICKLE CELL ANEMIA is the most common inherited blood disorder in the world. In the United States it affects about 80,000 Americans or 1 in 400 - 500 African Americans and 1 in 1,000 - 1,400 Latino-Americans.  It is most often characterized by episodes of pain, chronic anemia, and infections, usually beginning in early childhood.

Individuals with sickle cell anemia have structurally abnormal hemoglobin, called sickle hemoglobin (HbS).  Hemoglobin is an oxygen carrying protein in the blood.  Under certain conditions, like low oxygen levels, the sickle hemoglobin will cause the red blood cells to become distorted into sickle shapes, like a crescent.  These deformed and rigid red blood cells become trapped within the small blood vessels, blocking them, and producing pain and eventually damaging tissues and organs.

Those with sickle cell anemia (the disease) have 2 sickle hemoglobin genes (SS or homozygous).  A person with 1 normal hemoglobin gene and 1 sickle hemoglobin gene (AS) are carries (the trait, not the disease) and may pass 1 abnormal sickle gene to their child.  About 8% of the African American population are carriers.  The world’s highest rates of sickle cell disease are found in areas of high malaria incidence, and carries are somewhat protected against malaria.

A combination of fluids, painkillers, antibiotics and blood transfusion may be used to treat the symptoms and complications of sickle cell disease.  Hydroxyurea, an antitumor drug, has been shown to be effective in preventing painful crises in some patients.  There are other medications in research and development to treat the disease.  Presently, the only potential cure for sickle cell anemia is a bone marrow transplant, which has been successfully done on a very small minority of patients.  Bone marrow transplantation is not yet an option for the majority of patients; partly due to the scarce availability of matched bone marrow donors, and the potential for serious complications and even death from the procedure.  Yet, there is ongoing improvement in this technology, as well as development of gene therapy techniques that may lead to a cure as well.