What Is Sickle Cell Anemia?

What Is Sickle Cell Anemia?

Sickle cell anemia is a genetic disease, passed down from family members, in which red blood cells that are usually shaped like a disc form an abnormal crescent (sickle) shape.

In a normal circulatory system, blood cells contain hemoglobin. Hemoglobin is a protein that carries oxygen in the red blood cells. In sickle cell patients, the red blood cells contain hemoglobin S. Hemoglobin S is an abnormal form of hemoglobin which deforms the shape of red blood cells.

The abnormal red blood cells are very weak, fragile, and easily caught on blood cell walls. They also are not as efficient at carrying oxygen so they carry less oxygen to vital organs. Ultimately, the blood flow is disrupted and very unhealthy for those affected.

As previously stated, sickle cell anemia is a genetic disease. The disease is inherited from both parents with each parent at least carrying the sickle cell trait. The disease has been more commonly represented in people from African or Mediterranean descent.

The symptoms of the disease cause patients to go into episodes referred to as sickle cell crises. The crises can last for hours or for days. The back, chest, and long bones are generally the most painful and vulnerable body parts during crises. The common symptoms of sickle cell anemia are abdominal pain, bone pain, breathlessness, delayed growth, fatigue, fever, paleness, rapid heart rate, ulcers and jaundice.

Biologically the disease can be diagnosed with complete blood count, hemoglobin electrophoresis, and sickle cell tests. At one point there was virtually no treatment for sickle cell and life span for a sickle cell patient was very short, generally early 20's. Due to the development of antibiotics, vaccines, and blood transfusion techniques, the average life span of sickle cell patients has increased to more than 50 years.

Hebbel RP. Pathobiology of sickle cell disease. In: Hoffman R, Benz EJ, Shattil SS, et al., eds. Hematology: Basic Principles and Practice. 5th ed. Philadelphia, Pa: Elsevier Churchill Livingstone;2008:chap 42.

Saunthararajah Y, Vichinsky EP, Embury SH. Sickle cell disease. Clinical features and management. In: Hoffman R, Benz Jr. EJ, Shattil SS, eds. Hematology: Basic Principles and Practice. 5th ed. Philadelphia, Pa: Churchill Livingston; 2008:chap 43.

U.S. Preventive Services Task Force. Screening for Sickle Cell Disease in Newborns: U.S. Preventive Services Task Force Recommendation Statement. Agency for Healthcare Research and Quality, Rockville, MD. Sep 2007:AHRQ Publication No. 07-05104-EF-2.