Sickle cell anemia, or sickle cell disease (SCD), is a genetic disease in which the red blood cells (RBCs) tend to have an abnormal crescent shape resembling a sickle.
RBCs are normally, disc-shaped and thus have the flexibility to travel through even the smallest blood vessels. However, a person with sickle cell anemia has sickle-shaped red blood cells which can die prematurely, and in turn, can lead to anemia. Sometimes the inflexible, sickle-shaped cells get stuck in small blood vessels and can cause serious medical complications as the oxygen supply is cut off.
Sickle cell anemia is caused by the mutations in the regions of DNA that are responsible for the creation of hemoglobin. The mutation in that gene can distort red blood cells into a sickle shape.
Anemia is the first obvious symptom of Sickle cell anemia since sickle cells are easily broken. Typically, RBCs generally live for about 120 days whereas sickle cells live for a maximum of 10 to 20 days. Hand-foot syndrome might also occur when sickle-shaped RBCs block blood vessels in the hands or feet. This causes the hands and feet to swell and this is the first symptom in babies. Next would be Splenic sequestration which is a blockage of the splenic vessels by sickle cells. It causes a sudden, painful enlargement of the spleen. The spleen may have to be removed due to complications of sickle cell disease in an operation known as a splenectomy. Delayed growth can be observed in people with SCD. Children are generally shorter but regain their height by adulthood. Sexual maturation may also be delayed.
Apart from this, seizures, strokes, or even coma can result from sickle cell disease. They are caused by brain blockages. Sometimes even blindness is caused by blockages in the vessels supplying blood to the eyes. This can damage the retina. Since SCD interferes with blood oxygen supply, it can also cause heart problems which can lead to heart attacks, heart failure, and abnormal heart rhythms. The decreased blood flow can result in high blood pressure in the lungs (pulmonary hypertension) and scarring of the lungs (pulmonary fibrosis). Lung damage makes it more difficult for the lungs to transfer oxygen into the blood, which can result in more frequent sickle cell crises.
Management of sickle cell anemia is usually aimed at avoiding pain episodes, relieving symptoms, and preventing complications. Treatments might include medications and blood transfusions. For some children and teenagers, a stem cell transplant might cure the disease.