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Unformatted text preview: Sickle Cell Anemia By: Lin Chen Griselda Sanchez Kimberly Tolentino Scott Solski Sickle Cell Anemia Congenital hematologic disease Inherited and lifelong disease. Must inherit two copies of the sickle cell gene, one from each parent to acquire disease . People who inherit only one sickle cell gene have a condition called sickle cell trait. Most common in African American descent. How it Happens Sickle cell anemia is results from homozygous inheritance of an autosomal recessive gene mutation that produces a defective hemoglobin molecule( hemoglobin S). The Hemoglobin S causes red blood cells to become sickle shaped. Occurs as a result of a mutation in the gene that encodes the beta chain of hemoglobin therefore causing a structural change in hemoglobin. RBC Shape Discshaped Crescentshaped Red Blood Cells Carry oxygen and remove the carbon dioxide from the body. Contain ironrich protein : Hemoglobin Sickle Cell Anemia can also occur if the red blood cells do not contain enough hemoglobin. When cells receive abnormal hemoglobin and become crescentshaped, these cells have a hard time moving throughout the blood vessels. What’s the Difference? Normal RBCs – 120day life span – Normal oxygen – carrying capacity – RBCs destroyed at a normal rate Sickle cells – 30 – 40 day life span – Decreased oxygen carrying capacity – RBCs destroyed at an accelerated rate. Hemoglobin In sickle cell disease almost all hemoglobins are hemoglobin S. Sickle Cell Anemia: low hemoglobin level . Sickle Cell Crisis Triggered by infection, cold exposure, high altitudes, overexertion and conditions that cause cellular oxygen deprivation. Deoxygenated sickle cells adhere to the capillary walls, blocking blood flow and causing cellular hypoxia. Causes impaired circulation, chronic illness and premature deaths. Symptoms – – – – – – – – – Chronic fatigue Unexplained dyspnea Joint swelling Aching bones Severe localized or generalized pain Leg ulcer Frequent infection Headache Pale skin – Sudden pain in the body. This pain is due to the clumps of red blood cells in the blood vessels. – The most common symptom is FATIGUE (weakness and tiredness) Syndromes HandFoot Syndrome: – This occurs when the sickle cells block the small blood vessels in children in their hand and feet. – This condition causes massive swelling and pain moving through the back of the individual’s hands and feet and eventually moving into the fingers and toes. Syndromes Acute Chest Syndrome: – It is similar to pneumonia and is caused by an infection or sickle cells that are trapped inside the lungs. – People with this condition experience shortness of breath and chest pain, as well as a fever and low oxygen levels. – This condition can be very life threatening. Tests & Diagnosis: Mandatory testing for sickle cell anemia as part of newborn screening programs Highperformance Liquid Chromatography Testing before birth include amniocentesis Hemoglobin electrophoresis Complete Blood Cell Count – determines if newborn has the sickle cell disease or sickle cell trait – Identifies which type of hemoglobin is present. – usually done 10 weeks of pregnancy – measures the different types of hemoglobin in blood Treatments Treatment for sickle cell anemia aims to alleviate symptoms and prevent painful crises. Analgesics: relieve the pain from vasooclusive crises. IV therapy prevents dehydration and vessel occlusion Encourage patients to drink plenty of fluids Iron and folic acid supplements may help prevent anemia Treatments Avoid deoxygenation, acidosis, and dehydration. Hydroxyurea – prevents sickle cell crises Blood transfusions – used to treat worsening anemia and sickle cell and decrease hemoglobin level. Blood and marrow stem cell transplant Gene therapy Nitric Oxide Decitabine Just F.Y.I Estimated more than 70,000 people have sickle cell anemia in the US. About 1 in 10 African Americans carry the abnormal gene. 1 in every 400 to 600 African American children has sickle cell anemia. In the past, people with this disease died in their early 20s . Today, average life expectancy is age 45. Famous People with Sickle Cell Anemia: Miles Davis – was a popular jazz musician who was diagnosed with sickle cell in his early teens. Tionne “TBoz” Watkins singer from the popular band TLC. Mobb Deep was a popular rapper who suffers from sickle cell. He was diagnosed later in his life. Paul Williams singer from the Temptations also suffers from sickle cell. ...
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- Spring '11