Sickle cell anemia
...the bone marrow to stop producing red blood cells. Repeated crisis can cause permanent damage to the organs and central nervous system. Blocked blood vessels and damaged organs can cause painful episodes. The painful crisis occurs in almost all patients at some point in their lives and can last from hours to days. Some patients have one episode every few years, while others have quite a few per year. The crises can be severe enough to require admission to the hospital for pain control and intravenous fluids. The clinical manifestations of sickle cell anemia are diverse, and any organ system may be affected. These manifestations are commonly divided into vasoocclusive, hematologic, and infectious crises. Vasoocclusive crises occur when the microcirculation is obstructed by sickled red blood cells, causing injury to the organ supplied. During the episodes, pain is the most frequent complaint. Recurrent episodes may cause irreversible organ damage. Vasoocclusive crisis can involve the bones, joints, abdominal organs, liver, spleen, lungs, and the central nervous system. It can also cause cerebral infarction, hemorrhages and seizures. Hematologic crises are manifested by a sudden exacerbation of anemia, with a corresponding drop in the hemoglobin level. This can be due to acute splenic sequestration in which sickles cells block splenic outflow, leading to the pooling of peripheral blood in the engorged spleen. Hematologic crises can also be caused by aphasia, in which the bone marrow stops producing new red blood cells. Infectious crises are due to underlying function asplenia in most adults with sickle cell anemia, leading to defective immunity against organisms. Individuals with infectious crisis also have lower serum immunoglobulin, impaired opsonization, and sluggish alternative complement pathway activation. Sickle cell anemia is entirely genetic because it can only result when two carries with the sickle cell trait have a child together. If two people who carry the sickle cell gene have a child, the chances are 50% that the child will carry the sickle cell gene, but not have sickle cell anemia, 25% that the child will be born with the sickle cell anemia, and 25% that the child will not carry the sickle cell gene. Someone who inherits the gene from one parent, but not the other will have sickle cell trait. Their bodies make both normal hemoglobin and sickle cell hemoglobin. Their blood may contain some sickle cells, but they usually don’t experience any symptoms unless they’re in an area with low oxygen-such as a high altitudes on an airplane or on a mountain. Doctors diagnose sickle cell anemia through a blood test that checks for hemoglobin S, the defective form of hemoglobin that underlies the disease. The doctor draws a sample of your blood and sends the sample to a laboratory. At the laboratory a technical performs a test called hemoglobin electrophoresis. This test identifies the type of hemoglobin you have. If your blood shows only hemoglobin A, you have normal hemoglobin and your healthy. If your blood shows that you have both hemoglobin A and some hemoglobin S, you carry the sickle gene cell. If you have only hemoglobin S, the diagnosis is sickle cell anemia. Although the sickle cell anemia is inherited and present at birth, symptoms don’t usually occur until after 4 months of age. Among patients with sickle cell disease, approximately 50% do not survive beyond age of 20. Sickle cell anemia affects mainly black, though people of South America, Southern European, or Middle Eastern descent are also at risk. About one in 500 black newborns, and one out of every 1,000 Hispanic babies are diagnosed with sickle cell anemia each year in the united states. No predilection exists, since the sickle cell anemia is not an X-linked disease. There is no cure for sickle cell anemia but there are treatmen...