Sickle Cell Disease: An Overview
Sickle Cell Disease is a genetic disorder in which the body produces sickled shaped red blood cells. In sickle cell disease, or SCD, the hemoglobin in red blood cells groups together. This causes red blood cells to become stiff and C-shaped. These sickled cells prevent blood and oxygen flow in blood vessels, and collect in the blood vessels of the limbs and organs, impeading proper oxygenation of the blood. The most common signs and symptoms are linked to anemia and pain. Other signs and symptoms are linked to the disease's complications.
Sickle Cell Disease is most common in people whose families come from Africa, South or Central America (especially Panama), Caribbean islands, Mediterranean countries (such as Turkey, Greece, and Italy), India, and Saudi Arabia. In the United States, it's estimated that sickle cell anemia affects 70,000–100,000 people, mainly African Americans. The disease occurs in about 1 out of every 500 African American births. Sickle cell anemia also affects Hispanic Americans. The disease occurs in
The three most common types of SCD are HbSS, HbSC, and HbS beta thalassemia. People who have the HbSS mutation inherit two sickle cell genes (“S”), one from each parent. This is commonly called sickle cell anemia and is usually the most severe form of the disease. People who have HbSC inherit a sickle cell gene (“S”) from one parent and from the other parent a gene for an abnormal hemoglobin called “C”. This is usually a milder form of SCD. HBT occurs when a person inherit one sickle cell gene (“S”) from one parent and one gene for beta thalassemia, another type of anemia, from the other parent. There are two types of beta thalassemia: “0” and “+”. Those with HbS beta 0-thalassemia usually have a severe form of SCD. People with HbS beta +-thalassemia tend to have a milder form of SCD. There also are a few rare types of SCD: HbSD, HbSE, and HbSO. People who have these forms of SCD inherit one sickle cell gene (“S”) and one gene from an abnormal type of hemoglobin (“D”, “E”, or “O). The severity of these rarer types of SCD varies. Sickle cell anemia can lead to a host of complications. The following describes some of the symptoms of those stricken with SCD:
Stroke. A stroke can occur if sickle cells block blood flow to an area of your brain. Acute chest syndrome. This life-threatening complication of sickle cell anemia causes chest pain, fever and difficulty breathing.
Pulmonary hypertension. Shortness of breath and difficulty breathing are common symptoms of this condition, which can be fatal.
Organ damage. Sickle cells may impede blood flow through blood vessels, immediately depriving an organ of blood and oxygen. Chronic deprivation of oxygen-rich blood can damage nerves and organs in your body, including your kidneys, liver and spleen. Blindness. Tiny blood vessels that supply your eyes can get blocked by sickle cells. This can damage the retina, the portion of the eye that...