Sickle Cell Amemia

1. Sickle Cell Amemia Mariela, Krystal, Yuri

2. What is Sickle Cell Anemia? • 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.

3. Sickle cell vs. sickle cell trait • 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 don’t 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

4. Who does SCD affect • No national registry for Sickle Cell Disease • ~100,000 living with SCD in the U.S • Present: 1 in 375 African Americans • Present: 1 in 1100- 1400 Hispanics • Present: 1 in 58,000 Caucasians --National Heart, Lung and Blood Institute 2007

5. Life Expectancy • In the United States, as recently as 1970, the average person with SCD died in childhood • 10% before their 10th birthday • 50% before 21st birthday • In 2000, as a result of early detection and improved tx, sickle cell pt’s live into their 40s and 50s • About 1,000 babies are born with Sickle Cell Disease each year in America --National Institutes of Health

6. Normal vs. Sickle Hemoglobin Normal • Disc shaped • Soft • Easily flow through small BV’s • Live for about 120 days Sickle • Crescent shaped • Hard and sticky • Often get stuck in small BV’s • Live for about 20 days or less

8. Signs & Sx’s • Signs/sx’s vary from mild to severe. Sickle cell anemia is present at birth, but many infants don’t 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

9. Complications Anemia • Sickle cells are fragile • They break apart easily and die, leaving pt’s chronically short on red blood cells • Sickle cells die after only 10 to 20 days • 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 • Sx’s: pallor, fatigue, SOB on exertion

10. Complications Episodes of pain • Major symptom of sickle cell anemia • 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 • can last for a few hours to a few weeks • Sx’s: persistent pain in skeleton, chest, and/or abdomen

11. Complications Ulcers • 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 isn’t clear

12. Complications Hand-foot syndrome • Sickle cells can block sm. BV’s in the hands and feet • Swelling often occurs on the back of the hands and feet and moves into the fingers and toes • Sx’s: swollen/painful hands and feet.

13. Complications Splenic Crisis • The spleen normally filters out abnormal RBC’s and helps fight infections • 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 RBC’s blood transfusions are needed until the body can make more cells and recover

14. Complications Infections • Because sickle cell anemia damages the spleen (organ that helps fight infections) • 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 • Sx’s: malaise, cough, chest pain, diarrhea, and/or vomiting

15. Complications Delayed growth • 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 • Delays puberty in teenagers • Sx’s: patient more slender or small in size

16. Complications Vision problems • Sickle cells affect the sm. BV’s that deliver oxygen rich blood to the eyes. • Sickle cells block the BV’s or cause them to break open and bleed • Damaging the retinas • Resulting in background retinopathy, proliferative retinopathy, vitreous hemorrhages and retinal detachments, resulting in blindness

17. Complications Priapism • 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 • Sx’s: penile erection not related to arousal

18. Complications Stroke • Two types can occur: • One form occurs if a BV in the brain is damaged and blocked • Occurs more often in children than adults • Another form of stroke occurs if a BV in the brain bursts • Cause leaning problems and lasting brain damage, long term disability, paralysis, or death • Sx’s: sudden neurologic deficits including motor, difficulty w/language, writing, reading; seizures, sensory deficits, altered consciousness

19. Complications Pulmonary Hypertension • Damage to the small BV’s in the lungs makes it hard for the heart to pump blood through the lungs • 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 • 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

20. Complications Acute Chest Syndrome • Life threatening condition that is similar to pneumonia • Sickle cells are trapped in the lungs causing acute chest syndrome • Sx’s: cough, dyspnea, CP, fever

21. Complications Avascular necrosis • Avascular necrosis of the femur and humerus • Death of bone tissue due to disrupted blood supply • Marked by severe pain in the affected region and by weakened bone that may flatten and collapse

22. Screening • Hemoglobin Electrophoresis • Simple blood test • 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 • 9th and 10th week of pregnancy • Very small amount of material from the developing placenta • Slightly higher chance of miscarriage

23. Treatment for sickle cell anemia • The only cure for SCA is bone marrow or stem cell transplant. • 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 tx’s are available to help relieve the sx and complications of sickle cell anemia, but in most cases there’s NO cure.

24. Con’t • Medicines and fluids: OTC pain medicines, heating pads, rest , and plenty of fluids • Hydroxyurea: prompts the body to make fetal hemoglobin that helps prevent RBC’s from sticking and improves anemia, it reduces how often painful sickle cell crises and acute chest syndrome occur • Those taking hydroxyurea also need fewer blood transfusions • Studies show that it may help improve growth and preserve organ function •  hydroxyurea can reduce the number of WBC in the blood leading to increased risk of infection

25. Cont’d • Blood transfusions: used to treat worsening anemia due to an infection or enlarged spleen • 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 • Daily doses of AB’s may begin as early as 2months and continue until the child is at least 5yrs old.

26. Cont’d • Regular checkup with an eye doctor who specializes in disease of the retina • To detect eye damage • Routine transcranialdoppler TCD US • Used to check the speed of blood flow to the brain • Allow Dr’s 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

27. Cont’d • 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. • Causing the body to make normal RBC’s • Researchers are studying whether they can “turn off” the sick hemoglobin gene or “turn on” a gene that makes RBC’s 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 RBC’s and increases their oxygen preventing RBC from stickling.

28. Cont’d • 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.

29. Living with sickle cell anemia • Many people who have sickle cell anemia can live productive lives • Those with sickle cell anemia must: • 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. • Take steps to prevent and control complications • Learn ways to cope with pain • Avoid decongestants: these medicines can tighten BV’s making it harder for RBC’s to move smoothly through vessels