Mariela, Krystal, Yuri Sickle Cell Anemia is a disease passed down through families in which red blood cells form an abnormal crescent shape, where red blood cells are normally shaped like a disc. People who have sickle cell anemia are born with it; means inherited, lifelong condition They inherit two copies of sickle cell gene, one from each parent Sickle cell trait is different from sickle cell anemia. People with sickle cell trait dont have the condition, but they have one of the genes that cause the condition People with sickle cell anemia and sickle cell trait can pass the gene on when they have children No national registry for Sickle Cell Disease o ~100,000 living with SCD in the U.S Present: 1 in 375 African Americans Present: 1 in Hispanics Present: 1 in 58,000 Caucasians --National Heart, Lung and Blood Institute 2007 In the United States, as recently as 1970, the average person with SCD died in childhood o 10% before their 10 th birthday o 50% before 21 st birthday In 2000, as a result of early detection and improved tx, sickle cell pts live into their 40s and 50s About 1,000 babies are born with Sickle Cell Disease each year in America --National Institutes of Health Normal Disc shaped Soft Easily flow through small BVs Live for about 120 days Sickle Crescent shaped Hard and sticky Often get stuck in small BVs Live for about 20 days or less Signs/sxs vary from mild to severe. Sickle cell anemia is present at birth, but many infants dont show any signs until after 4 months of age. --- National Heart Lung and Blood Institute SOB Dizziness Headaches Coldness in the hands and feet Pale skin Jaundice Sickle cells are fragile o They break apart easily and die, leaving pts chronically short on red blood cells Sickle cells die after only 10 to 20 days o result in a chronic shortage of red blood cells, known as anemia. Without enough red blood cells in circulation, the body can't get the oxygen it needs to feel energized Sxs: pallor, fatigue, SOB on exertion Anemia Major symptom of sickle cell anemia o Periodic episodes of pain, called crises Pain develops when sickle-shaped red blood cells block blood flow through tiny blood vessels to the chest, abdomen and joints. Pain varies in intensity o can last for a few hours to a few weeks Sxs: persistent pain in skeleton, chest, and/or abdomen Episodes of pain Sick cell ulcers usually begin as small, raised, crusted sores on the lower third of the leg Occur more often in males than in females Develop usually at 10 yrs or older Some heal quickly, but others persisit for years or come back after healing The cause of sickle cell ulcers isnt clear Ulcers Sickle cells can block sm. BVs in the hands and feet Swelling often occurs on the back of the hands and feet and moves into the fingers and toes Sxs: swollen/painful hands and feet. Hand-foot syndrome The spleen normally filters out abnormal RBCs and helps fight infections o The spleen may trap RBC that should be in the bloodstream Causes the spleen to grow lg. and leads to anemia If the spleen traps too many RBCs blood transfusions are needed until the body can make more cells and recover SplenicCrisis Because sickle cell anemia damages the spleen (organ that helps fight infections) o Children, adults with sickle cell anemia get infections easily and have a difficult time fighting them Bloodstream infections are the most common cause of death in young children who have sickle cell anemia Sxs: malaise, cough, chest pain, diarrhea, and/or vomiting Infections Red blood cells provide the body with the oxygen and nutrients the body needs for growth. A shortage of healthy red blood cells can slow growth in infants and children o Delays puberty in teenagers Sxs: patient more slender or small in size Delayed growth Sickle cells affect the sm. BVs that deliver oxygen rich blood to the eyes. Sickle cells block the BVs or cause them to break open and bleed o Damaging the retinas Resulting in background retinopathy, proliferative retinopathy, vitreous hemorrhages and retinal detachments, resulting in blindness Vision problems Males who have sickle cell anemia have painful unwanted erections Sickle cells block blood flow out of an erect penis Overtime this can damage the penis and lead to impotence Sxs: penile erection not related to arousal Priapism Two types can occur: o One form occurs if a BV in the brain is damaged and blocked Occurs more often in children than adults o Another form of stroke occurs if a BV in the brain bursts o Cause leaning problems and lasting brain damage, long term disability, paralysis, or death Sxs: sudden neurologic deficits including motor, difficulty w/language, writing, reading; seizures, sensory deficits, altered consciousness Stroke Damage to the small BVs in the lungs makes it hard for the heart to pump blood through the lungs o Resulting in blood pressure in the lungs to rise High blood pressure in the lungs is a major risk factor for death in sickle cell disease o Almost one-third of adults with sickle cell have pulmonary hypertension and those with pulmonary hypertension have a much higher mortality rate than those without pulmonary hypertension Pulmonary Hypertension Life threatening condition that is similar to pneumonia Sickle cells are trapped in the lungs causing acute chest syndrome Sxs: cough, dyspnea, CP, fever Acute Chest Syndrome Avascular necrosis of the femur and humerus o Death of bone tissue due to disrupted blood supply o Marked by severe pain in the affected region and by weakened bone that may flatten and collapse Avascular necrosis Hemoglobin Electrophoresis o Simple blood test o Routine screening in high risk groups During pregnancy Prenatal testing Amniocentesis 16 and 18 weeks of the pregnancy Small risk or causing a miscarriage (1 in 100) Chorionic Villus Sampling CVS 9 th and 10 th week of pregnancy Very small amount of material from the developing placenta Slightly higher chance of miscarriage The only cure for SCA is bone marrow or stem cell transplant. o Bone marrow or stem cell transplants are very risky, and can have serious side effects, including death. For the transplant to work, the bone marrow must be a close match. Usually, the best donor is a brother or sister. Bone marrow or stem cell transplants are used only in cases of severe SCD for children who have minimal organ damage from the disease Effective txs are available to help relieve the sx and complications of sickle cell anemia, but in most cases theres NO cure. Medicines and fluids: OTC pain medicines, heating pads, rest, and plenty of fluids Hydroxyurea: prompts the body to make fetal hemoglobin that helps prevent RBCs from sticking and improves anemia, it reduces how often painful sickle cell crises and acute chest syndrome occur o Those taking hydroxyurea also need fewer blood transfusions o Studies show that it may help improve growth and preserve organ function o hydroxyurea can reduce the number of WBC in the blood leading to increased risk of infection Blood transfusions: used to treat worsening anemia due to an infection or enlarged spleen o Having routine blood transfusions can cause side effects such as allergic reactions and a dangerous buildup of iron in the blood Antibiotics: for treatment or prevention of infections which is a major complication of sickle cell anemia throughout life, especially during childhood o Daily doses of ABs may begin as early as 2months and continue until the child is at least 5yrs old. Regular checkup with an eye doctor who specializes in disease of the retina o To detect eye damage Routine transcranial doppler TCD US o Used to check the speed of blood flow to the brain o Allow Drs to find out which children are at high risk of stroke Skin grafts/cleansing solutions: may be used for ongoing leg ulcers Gallbladder surgery: needed if the presence of gallstones leads to gallbladder disease Fluids/surgery: to treat priapism Gene therapy: being studied as a possible tx for sickle cell anemia. Researchers are studying if a normal gene can be put into the bone marrow stem cells of a person who has sickle cell anemia. o Causing the body to make normal RBCs o Researchers are studying whether they can turn off the sick hemoglobin gene or turn on a gene that makes RBCs behave normally Decitabine: this medication prompts the body to make fetal hemoglobin Adenosine A2a receptor : helps reduce pain related complications 5-HMF: this natural compound binds to RBCs and increases their oxygen preventing RBC from stickling. Painful crises: treated with hydration, analgesics pain management requires opioid administration at regular intervals until the crisis has settled, most patients require inpatient management for intravenous opioids; patient- controlled analgesia (PCA) devices are commonly used in this setting. Drink plenty of fluids. Avoid getting too hot or too cold. Avoid places with high altitudes where oxygen levels are low. Avoid extreme exercise. Limit emotional stress. Many people who have sickle cell anemia can live productive lives Those with sickle cell anemia must: o Adopt/maintain a healthy lifestyle Healthy diet that include a variety of fruits, vegetable, and whole grains. Lean meats, poultry, fish, beans, and fat-free or low-fat milk and milk products. A diet that is low in saturated fat, trans fat, cholesterol, sodium, and added sugar. o Take steps to prevent and control complications o Learn ways to cope with pain Avoid decongestants: these medicines can tighten BVs making it harder for RBCs to move smoothly through vessels