Sickle cell anemia is a blood disorder where red blood cells become rigid and sickle-shaped. It is caused by a genetic mutation that affects hemoglobin. People with sickle cell anemia experience anemia, pain crises, and organ damage as oxygen cannot be properly transported through the body. There are different types of sickle cell disease depending on the specific genetic mutations inherited. Treatments can help manage symptoms but there is currently no cure.
Sickle cell anemia is a blood disorder where red blood cells become rigid and sickle-shaped. It is caused by a genetic mutation that affects hemoglobin. People with sickle cell anemia experience anemia, pain crises, and organ damage as oxygen cannot be properly transported through the body. There are different types of sickle cell disease depending on the specific genetic mutations inherited. Treatments can help manage symptoms but there is currently no cure.
Sickle cell anemia is a blood disorder where red blood cells become rigid and sickle-shaped. It is caused by a genetic mutation that affects hemoglobin. People with sickle cell anemia experience anemia, pain crises, and organ damage as oxygen cannot be properly transported through the body. There are different types of sickle cell disease depending on the specific genetic mutations inherited. Treatments can help manage symptoms but there is currently no cure.
Thalassemia Sickle-Cell Anemia is a blood disease that affects red blood cells. Normal red blood cells Hemoglobin S beta zero thalassemia occurs are round. In people with sickle cell anemia, when you inherit the hemoglobin beta S gene hemoglobin – a substance in red blood cells – from one parent and a hemoglobin beta0 becomes defective and causes the red blood thalassemia gene mutation from the other cells to change shape parent. It has similar symptoms to hemoglobin SS disease and is also called sickle cell Sickle cell anemia is one of a group of anemia because the body only produces disorders known as sickle cell disease. It is an hemoglobin S. However, sometimes the inherited red blood cell disorder in which there symptoms of beta zero thalassemia are more aren't enough healthy red blood cells to carry severe. It is associated with a poorer oxygen throughout your body. Normally, the prognosis. flexible, round red blood cells move easily 4. Hemoglobin SB+ (Beta) Thalassemia through blood vessels. In sickle cell anemia, the red blood cells are shaped like sickles or Hemoglobin SB+ (beta) thalassemia occurs crescent moons. These rigid, sticky cells can when you inherit the hemoglobin beta S gene get stuck in small blood vessels, which can from one parent and a hemoglobin beta plus slow or block blood flow and oxygen to parts of thalassemia gene from the other parent. In this the body. There's no cure for most people with type, some normal beta hemoglobin is sickle cell anemia. But treatments can relieve produced, but in reduced amounts. Because pain and help prevent complications the body produces some normal hemoglobin, associated with the disease. this form of sickle cell disease is less severe than hemoglobin SS disease. Symptoms are TYPES of SCA usually milder than hemoglobin SS or SC 1. Hemoglobin SS Disease disease, but complications can still develop. Hemoglobin SS disease is the most common 5. Hemoglobin SD, Hemoglobin SE, And and most severe type of sickle cell disease. It Hemoglobin SO occurs when you inherit the hemoglobin S gene mutation from both parents. In this type, These types of sickle cell disease are less the body only produces hemoglobin S. This common and are usually less severe. People type is often called “sickle cell anemia.” As the who have these forms of SCD inherit one most severe form of SCD, individuals with this sickle cell gene (“S”) and one gene from an form also experience the worst symptoms at a abnormal type of hemoglobin (“D”, “E”, or “O”). higher rate. Hemoglobin is a protein that allows red blood cells to carry oxygen to all parts of the body. 2. Hemoglobin SC Disease The severity of these rarer types of SCD Hemoglobin SC disease is the second most varies. common type of sickle cell disease. It occurs 6. Sickle Cell Trait (SCT) when you inherit the hemoglobin beta S gene from one parent and the hemoglobin C gene HbAS - People who have SCT inherit one from the other. Individuals with hemoglobin SC sickle cell gene (“S”) from one parent and one disease may have similar symptoms to normal gene (“A”) from the other parent. This is individuals with hemoglobin SS disease. called sickle cell trait (SCT). People with SCT However, the symptoms may be less severe usually do not have any of the signs of the and usually a milder form of SCD. disease and live a normal life, but they can pass the trait on to their children. Additionally, vascular damage are likely to be central there are a few, uncommon health problems components of the pathophysiology of sickle that may potentially be related to sickle cell cell anaemia. trait. CAUSES and RISK FACTORS of SCA Sickle cell anemia is caused by a mutation in the gene that tells the body to make the iron- rich compound that makes blood red and enables red blood cells to carry oxygen from the lungs throughout the body (hemoglobin). In sickle cell anemia, the abnormal hemoglobin causes red blood cells to become rigid, sticky and misshapen.
Both mother and father must pass the
defective form of the gene for a child to be affected.
If only one parent passes the sickle cell gene
to the child, that child will have the sickle cell trait. With one normal hemoglobin gene and one defective form of the gene, people with the sickle cell trait make both normal hemoglobin and sickle cell hemoglobin. Their blood might contain some sickle cells, but they generally don't have symptoms. They're carriers of the disease, however, which means they can pass the gene to their children.
RISK FACTORS: Having a family history of
sickle cell disease increases your risk for the disease. In the United States, it mainly affects African Americans. SIGNS and SYMPTOMS of SCA PATHOPHYSIOLOGY of SCA 1. Anemia. Sickle cells are more fragile than Sickle cell disease is caused by a mutation in normal red blood cells and break apart the beta-globin chain of the haemoglobin easily and tend to die in 10-20 days. molecule. Sickle haemoglobin, the result of this Normal red blood cells live for about 120 mutation, has the singular property of days. This causes a shortage of red blood polymerizing when deoxygenated. Exactly how cells, known as anemia and thus, needs to normal tissue perfusion is interrupted by be replaced. Without enough red blood abnormal sickle cells is complex and poorly cells, the body can't get enough oxygen, understood. Despite genetic identity at the site causing fatigue. of the sickle haemoglobin mutation, all patients 2. Episodes of pain. Periodic episodes of with sickle cell anaemia are not affected pain, called pain crises, are a major equally by this disease. Secondary genetic symptom of sickle cell anemia. Pain determinants and acquired erythrocyte and develops when sickle-shaped red blood cells block blood flow through tiny blood pressure in their lungs. This complication vessels to the chest, abdomen and joints. usually affects adults. Pain can also occur in the bones. o Organ damage. Sickle cells that block 3. Swelling of hands and feet. Also known blood flow to organs deprive the affected as hand-foot syndrome or dactylitis. The swelling is caused by sickle-shaped red organs of blood and oxygen. In sickle cell blood cells blocking blood flow to the hands anemia, blood is also chronically low in and feet. oxygen. This lack of oxygen-rich blood can 4. Frequent infections. Sickle cells damage nerves and organs, including the sometimes damage the tissues, leading to kidneys, liver and spleen, and can be fatal. ulcers. If they damage the spleen, you o Blindness. Sickle cells can block tiny blood could get infections. Doctors sometimes vessels that supply the eyes. Over time, give SCD patients vaccinations and antibiotics to prevent potentially life- this can damage the eye and lead to threatening infections, such as pneumonia. blindness. 5. Yellowing of skin, eyes and mouth. o Leg ulcers. Sickle cell anemia can cause Jaundice is a common sign and symptom open sores on the legs. of sickle disease. Sickle cells do not live as o Gallstones. The breakdown of red blood long as normal red blood cells and, cells produces a substance called bilirubin. therefore, they are dying faster than the A high level of bilirubin in the body can lead liver can filter them out. Bilirubin (which to gallstones. causes the yellow color) from these broken- o Priapism. In this condition, men with sickle down cells builds up in the system causing jaundice. cell anemia can have painful, long-lasting 6. Vision problems. Sickle cells can get stuck erections. Sickle cells can block the blood in the blood vessels that supply the eyes, vessels in the penis, which can lead to causing damage to the retina as well as impotence over time. vision problems. o Pregnancy complications. Sickle cell 7. Developmental delays. Red blood cells anemia can increase the risk of high blood provide the body with the oxygen and pressure and blood clots during pregnancy. nutrients needed for growth. A shortage of healthy red blood cells can slow growth in It can also increase the risk of miscarriage, infants and children and delay puberty in premature birth and having low birth weight teenagers. babies. o Splenic sequestration (pooling). Crises COMPLICATIONS of SCA are a result of sickle cells pooling in the o Stroke. Sickle cells can block blood flow to spleen. This can cause a sudden drop in an area of the brain. hemoglobin and can be life-threatening if o Acute chest syndrome. A lung infection or not treated promptly. The spleen can also sickle cells blocking blood vessels in the become enlarged and painful from the lungs can cause this life-threatening increase in blood volume. After repeated complication, resulting in chest pain, fever episodes, the spleen becomes scarred, and and difficulty breathing. It might require permanently damaged. emergency medical treatment. o Pulmonary hypertension. People with LABORATORY and DIAGNOSTIC TESTS sickle cell anemia can develop high blood 1. Hb electrophoresis Identifies any abnormal hemoglobin teenagers, a stem cell transplant might cure types. This test can also differentiate the disease. between sickle cell trait and sickle cell anemia. A. Medications 2. CBC – a test that measures and counts the Hydroxyurea (Droxia, Hydrea, Siklos). amount of blood cells. A patient with sickle Daily hydroxyurea reduces the frequency of cell anemia has the following CBC results: painful crises and might reduce the need for o Reticulocytosis – there is an blood transfusions and hospitalizations. It elevation in the number of can also increase your risk of infections. reticulocytes or the RBCs that are Don't take the drug if you're pregnant. still developing or immature RBCs L-glutamine oral powder (Endari). The (count may vary from 30%–50%) FDA recently approved this drug for o Leukocytosis – there is an increased treatment of sickle cell anemia. It helps in levels of leukocytes in the blood reducing the frequency of pain crises. which indicates infection Crizanlizumab (Adakveo). The FDA o Decreased Hb (5–10 g/dL) and total recently approved this drug for treatment of RBCs sickle cell anemia. Given through a vein, it o Elevated platelet helps reduce the frequency of pain crises. o Normal to elevated MCV Side effects can include nausea, joint pain, 3. Sickle-turbidity tube test (Sickledex) back pain and fever. Routine screening test that determines Pain-relieving medications. Your doctor the presence of hemoglobin S (HbS) – might prescribe narcotics to help relieve or an abnormal hemoglobin that causes pain during sickle cell pain crises. red blood cells to become stiff and Voxelotor (Oxbryta). The Food and Drug abnormally shaped. Normal hemoglobin Administration (FDA) recently approved this in an adult is mostly Hgb A but sickle oral drug to improve anemia in people with cell anemia patient results from the sickle cell disease. Side effects can include hereditary presence of abnormal Hgb S headache, nausea, diarrhea, fatigue, rash in place of Hgb A and fever.
4. Stained RBC examination B. Surgical and other procedures
Normally, red blood cells are Blood transfusions. In a red blood cell disc shaped while patients who have transfusion, red blood cells are removed sickle cell anemia, the stained RBC from a supply of donated blood, then given examination demonstrates partially through a vein to a person with sickle cell or completely sickled, crescent- anemia. This increases the number of shaped cells. normal red blood cells, which helps reduce symptoms and complications. 5. ABGs May reflect acidosis and decreased Stem cell transplant. Also known as bone Po2 marrow transplant, this procedure involves MEDICAL and SURGICAL TREATMENT replacing bone marrow affected by sickle Management of sickle cell anemia is usually cell anemia with healthy bone marrow from aimed at avoiding pain episodes, relieving a donor. The procedure usually uses a symptoms and preventing complications. matched donor, such as a sibling, who Treatments might include medications and doesn't have sickle cell anemia. Because of blood transfusions but for some children and the risks associated with a bone marrow transplant, the procedure is recommended Drink plenty of water. Dehydration can only for people, usually children, who have increase your risk of a sickle cell crisis. significant symptoms and complications of Drink water throughout your day, aiming for sickle cell anemia. The procedure requires about eight glasses a day. Increase the a long hospital stay. After the transplant, amount of water you drink if you exercise or you'll receive drugs to help prevent rejection spend time in a hot, dry climate. of the donated stem cells. Avoid temperature extremes. Exposure to extreme heat or cold can increase your risk C. Other Treatments of a sickle cell crisis. Rehydration with intravenous fluids Exercise regularly, but don't overdo it. helps red blood cells return to a normal Talk with your doctor about how much state. The red blood cells are more likely to exercise is right for you. deform and assume the sickle shape if Use over-the-counter (OTC) medications you’re dehydration. with caution. Use OTC pain medications, Treating underlying or associated such as ibuprofen (Advil, Motrin IB, infections is an important part of managing Children's Motrin, others) or naproxen the crisis, as the stress of an infection can sodium (Aleve), sparingly, if at all, because result in a sickle cell crisis. An infection may of the possible effect on your kidneys. Ask also result as a complication of a crisis. your doctor before taking OTC drugs. Supplemental oxygen is given through a Don't smoke. Smoking increases your risk mask. It makes breathing easier and of pain crises. improves oxygen levels in the blood. Immunizations can help prevent infections. NURSING MANAGEMENT Patients tend to have lower immunity. 1. Prevent tissue deoxygenation – since Childhood vaccinations are important for sickle cell disease patients frequently preventing disease in all children. They're experience low oxygen levels due to the even more important for children with sickle reduced oxygen-carrying capacity of cell anemia because their infections can be hemoglobin S severe. Vaccines against pneumonia and o Monitor respiratory rate, depth, use meningitis and an annual flu shot are also helpful. Vaccines are also important for of accessory muscles, and areas of adults with sickle cell anemia. cyanosis. These are indicators of A person with sickle cell disease should adequacy of respiratory function and the begin having regular eye exams at 9 or 10 need for therapy. years old. The exams will be repeated o Regularly assess level of annually for patients with sickle hemoglobin consciousness. Brain tissue is very C disease and every other year for those sensitive to decreases in oxygen. Doing with other types of sickle cell disease. the assessment may be an early indicator of developing hypoxia. D. Lifestyle and Home Remedies o Assist client in turning, coughing, Take folic acid supplements daily, and and deep-breathing exercises. choose a healthy diet. Bone marrow Promote expansion of chest optimally, needs folic acid and other vitamins to make mobilization of secretions, and aeration new red blood cells. Ask your doctor about of all lung fields. a folic acid supplement and other vitamins. Eat a variety of colorful fruits and o Assist with ADLs and mobility as vegetables, as well as whole grains. needed. Limit activities within patient’s tolerance. Reduces the metabolic requirements of the body o Inspect skin and pressure points would reduce the oxygen requirements. regularly for redness. Poor circulation may predispose to rapid skin 2. Promote rest breakdown. o Schedule rest periods and encourage o Note and monitor ischemic areas, patient to alternate rests and activity. cuts, bumps, and bruises closely for To protect the patient from excessive ulcer formation. These serves as fatigue and reduce oxygen demands. potential entry sites for pathogenic 3. Pain management – pain develops when organisms. In presence of altered sickled cells clog small blood vessels. Pain immune system, this increases risk of can occur in the patient’s chest, abdomen, infection and delayed healing. joints and bones. o Protect bony prominences with o Teach and discuss alternative pain pillows. Decreases pressure on tissues, relief measures. Such as relaxation preventing skin breakdown. techniques, breathing techniques, meditation, distraction techniques and 5. Maintain adequate hydration use of heating pads to affected areas. o Encourage adequate fluid intake (2 to This can help the patient to reduce 3 L/day) if not contraindicated. reliance on pharmacological means of Adequate intake is necessary to provide pain control. This also enhances the for mobilization of secretions and patient’s sense of control. prevent hyper viscosity of blood occlusion. o Provide support and carefully position affected extremities. To 6. Promote client’s knowledge reduce edema, discomfort, and risk of o Teach patient about situations that can injury. precipitate a sickle cell crisis and steps o Massage gently affected areas. Helps to take to prevent or diminish such reduce muscle tension. crises.
o Encourage ROM exercises. Prevents
joint stiffness and possible contracture formation.
o Administer and monitor RBC
transfusions as indicated. Frequency of painful sickle-cell crises may be reduced by routine partial exchange transfusions to maintain the population of normal RBCs.
4. Prevent infection - because patients with
sickle cell anemia are susceptible to infections, they are assessed for the presence of any infectious process.