Sickle cell anemia -cause, clinical features and management Custom Search Sickle cell disease which includes sickle cell anemia results from abnormal hemoglobin resulting from a genetic mutation. It is a common cause of anemia in some countries. The name is derived from the characteristic sickle shape of the red blood cells in this disease. The abnormal hemoglobin is known as Hemoglobin S. This hemoglobin when deoxygenated undergoes polymerization. This process leads to deformity of RBCs. The deformed RBCs have a reduced life span as they are easily destroyed causing hemolytic anemia. The deformed RBCs also interfere with the smooth flow of blood in the capillaries leading to blockage of capillaries. The ensuring ischemia leads to damage of tissues. 1-Normal cells 2-Sickle cells
Symptoms and signs: The children affected by sickle cell anemia are normal at birth. Symptoms appear after several months. Hemolytic anemia is usually present by one year of age. Anemia manifests as pallor and easy fatigability. Occasionally jaundice may be present due to increased load of bilirubin. Some children may develop gallstones. The spleen is commonly enlarged due to sequestration of sickle cells. Severe congestion of spleen may seriously impair function of spleen. Such children are at increased risk of suffering from serious infection particularly due to pneumococci. The congestion of spleen can sometimes manifest as sudden enlargement, exacerbation of anemia, severe pain, shock and even death. Acute exacerbation of anemia can also occur due to aplastic crisis (a condition in which the normal function of the bone marrow is seriously impaired causing reduction in all three types of blood cells) which is usually triggered by some viral infection. Many symptoms and signs are caused by ischemia (reduced blood flow) due to the reason mentioned above. There may be pain in the fingers (reduced blood supply to small bones). It can affect the toes also (Hand and foot syndrome). Recurrent abdominal pain due to ischemia of abdominal organs is another manifestation. Strokes can also occur due to ischemia of brain. Ischemia of lungs can cause infarction (death of tissue) and infection manifesting as fever, cough and chest pain (Acute chest syndrome). Any tissue in the body may be affected by ischemia and hence the manifestations of the disease can be protean. Laboratory finding: Hemoglobin level is reduced. Examination of peripheral smear shows characteristic sickle cells and target cells. Routine neonatal screening is done in places where the disease is common. Custom Search
Page last reviewed on 16th May 2010
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