What is Sickle Cell Disease?
Sickle cell disease (SCD) is an inherited blood disorder which typically causes low red blood cell counts (anemia) and unpredictable, painful episodes (often called sickle cell crises). The manifestations of SCD are mainly due to the presence of an abnormal hemoglobin, the protein that is contained in red blood cells, which helps to carry oxygen throughout the body. In patients with SCD, the abnormal hemoglobin causes the normally round red blood cells to form cells that are shaped like crescent or half-moons, called sickle cells. These sickle cells as well as other blood cells can become stuck to the blood vessel wall and obstruct blood flow. This stops oxygen from getting through the body and causes a lot of pain. SCD affects practically every part of the body, although the parts of the body affected may vary among patients. In addition with pain, patients with SCD can experience fatigue, jaundice (yellowness of the eyes), swelling of the hands or feet, shortness of breath and an increased rate of infections. SCD can also lead to delayed growth, stroke, and damage of many organs throughout the body such as the kidneys, heart and lungs.
Sickle cell disease can be diagnosed by a blood test. Every state requires that all newborn babies are tested for SCD as part of their newborn screening.
Treatment of young patients between the ages of 2 months and 5 years includes the use of antibiotics to help prevent infections. Patients should be seen regularly in clinic to treat complications, screen for complications, and promote overall general health and well-being. There are currently two drugs approved specifically for the treatment of SCD, hydroxyurea and L-glutamine. SCD can be cured using bone marrow transplant techniques and a lot of work is being done exploring the potential of gene therapy as a curative approach.