Sickle Cell Anemia Gregg Selke, Ph.D. 11/28/06
What is Sickle Cell Anemia (SCA)? <ul><li>First described in Chicago in 1910 by James Herrick as an inherited condition th...
Mechanism <ul><li>Red blood cells  (RBC) </li></ul><ul><ul><li>Contain a special protein called haemoglobin (Hb) </li></ul...
Mechanism -HbS <ul><li>When sickle haemoglobin (HbS) gives up its oxygen to the tissues, HbS sticks together  </li></ul><u...
<ul><li>Genetics </li></ul><ul><li>2 copies of the gene for Hb (each parent) </li></ul><ul><li>HbS –Recessive </li></ul><u...
<ul><li>Sickle Cell Trait </li></ul><ul><li>Sickle haemoglobin (S) + Normal haemoglobin (A)  in RBC </li></ul><ul><ul><li>...
<ul><li>Sickle Cell Anemia  </li></ul><ul><ul><li>Sickle haemoglobin (HbS) + Sickle haemoglobin (HbS) </li></ul></ul><ul><...
Other Sickling Disorders <ul><li>Other types of Hb combine with sickle Hb </li></ul><ul><li>Hemoglobin S-C disease  </li><...
Some Genetic History <ul><li>The error in the hemoglobin gene  results from a genetic mutation that occurred many thousand...
Sickle Cell Gene Severe Malaria
<ul><li>As populations migrated, the sickle cell-mutation spread to other Mediterranean areas, further into the Middle Eas...
<ul><li>Most common in Africans and African Americans. </li></ul><ul><li>East Asia,  Southern Italy,  Saudi Arabia, India,...
Prevalence <ul><li>More than 2.5 million Americans have the trait </li></ul><ul><li>70,000 or more Americans have sickle c...
<ul><li>Among African - Americans </li></ul><ul><li>1 in 12 have Sickle Cell Trait (Hb SA) </li></ul><ul><li>1 in 600 have...
Screening <ul><li>Haemoglobin Electrophoresis </li></ul><ul><ul><li>Simple Blood test  </li></ul></ul><ul><ul><li>Routine ...
Early Symptoms  and Complications <ul><li>Typically appear during infant's first year </li></ul><ul><ul><ul><li>1 st  symp...
Medical Complications <ul><li>pain episodes  </li></ul><ul><li>strokes  </li></ul><ul><li>increased infections </li></ul><...
<ul><li>Infectious  complications  </li></ul><ul><ul><li>Prominent early in life  </li></ul></ul><ul><ul><li>Leading cause...
<ul><li>Strokes  </li></ul><ul><ul><li>Up to 15% of children may have overt or silent strokes during childhood  </li></ul>...
Serious Complications <ul><li>Leg ulcers   </li></ul><ul><ul><li>Seen in patients older than 10 years of age </li></ul></u...
Serious Complications: PAIN Recurrent Pain Episodes or  Sickling Crises <ul><li>Occur at any age but appear to be particul...
<ul><li>Fever  </li></ul><ul><li>Chest pain  </li></ul><ul><li>Shortness of Breath  </li></ul><ul><li>Increasing tiredness...
Crises <ul><li>During a crisis </li></ul><ul><ul><li>severe pain in the fingers, toes,  </li></ul></ul><ul><ul><li>arms, j...
<ul><li>Infections </li></ul><ul><li>Thirst and dehydration caused by not drinking enough even if thirst is not felt  </li...
<ul><li>Children and families can often tell when a severe sickle pain is coming on by  </li></ul><ul><li>Thirst </li></ul...
Alleviating Pain <ul><li>Warmth: increases blood flow  </li></ul><ul><li>Massaging and rubbing  </li></ul><ul><li>Heat fro...
<ul><li>Taking the folic acid (folate) daily to help make new red cells </li></ul><ul><li>Daily penicillin until age six t...
Treating Complications <ul><li>Pain-killing drugs and oral and intravenous fluids   </li></ul><ul><ul><li>To reduce pain a...
Psychosocial Issues <ul><li>Require regular medical attention  </li></ul><ul><ul><li>Especially before and after operation...
<ul><li>Child should be encouraged to participate in sports, but not pushed passed their limitations </li></ul><ul><ul><li...
<ul><li>Child Specific Issues: Coping with Pain  </li></ul><ul><ul><li>Pain happens more often  </li></ul></ul><ul><ul><ul...
<ul><li>Variability and Unpredictability  </li></ul><ul><ul><li>Some are mildly affected and largely free from pain, while...
<ul><li>To reduce risk of crisis, children are encouraged to drink much more than normal and more frequently </li></ul><ul...
<ul><li>Hydroxyurea </li></ul><ul><ul><li>The first effective drug treatment for adults with severe sickle cell anemia rep...
<ul><li>Bone marrow transplantation   </li></ul><ul><ul><li>Shown to provide a cure for severely affected children with si...
<ul><li>The Ultimate Cure?  </li></ul><ul><li>Gene Therapy </li></ul><ul><li>Correcting the “defective gene” and inserting...
Websites http://www.sicklecellsociety.org/  : Another Great Site information, Counselling and Caring for those with Sickle...
Sites for Kids http://www.sicklecellsociety.org/sicklescene/pshomf.htm   Planet Sickle Cell Society (UK based) -Youth supp...
Support Group Information: Florida, Jacksonville: Sickle Cell Support Groups (904) 549-4472 Georgia, Atlanta:  Parent SC S...
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Sickle Cell.ppt

  1. 1. Sickle Cell Anemia Gregg Selke, Ph.D. 11/28/06
  2. 2. What is Sickle Cell Anemia (SCA)? <ul><li>First described in Chicago in 1910 by James Herrick as an inherited condition that results in a decrease in the ability of red blood cells to carry oxygen throughout the body </li></ul><ul><ul><li>Sickle red blood cells become hard and irregularly shaped (resembling a sickle) </li></ul></ul><ul><ul><li>Become clogged in the small blood vessels and therefore do not deliver oxygen to the tissues. </li></ul></ul><ul><ul><li>Lack of tissue oxygenation can cause excruciating pain, damage to body organs and even death. </li></ul></ul>
  3. 3. Mechanism <ul><li>Red blood cells (RBC) </li></ul><ul><ul><li>Contain a special protein called haemoglobin (Hb) </li></ul></ul><ul><ul><li>Hb is the component that carries oxygen from the lungs to all parts of the body </li></ul></ul><ul><ul><li>Most people have only hemoglobin type – Hb A within RBC (normal genotype: Hb AA) </li></ul></ul><ul><ul><li>Sickle Cell: HbS </li></ul></ul><ul><ul><ul><li>S similar to A, but one structural change </li></ul></ul></ul><ul><ul><li>Other types: HbC, HbD, and HbE </li></ul></ul>
  4. 4. Mechanism -HbS <ul><li>When sickle haemoglobin (HbS) gives up its oxygen to the tissues, HbS sticks together </li></ul><ul><ul><li>Forms long rods form inside RBC </li></ul></ul><ul><ul><li>RBC become rigid, inflexible, and sickle-shaped </li></ul></ul><ul><ul><li>Unable to squeeze through small blood vessels, instead blocks small blood vessels </li></ul></ul><ul><ul><li>Less oxygen to tissues of body </li></ul></ul><ul><li>RBCs containing HbS have a shorter lifespan </li></ul><ul><ul><li>Normally 120 days </li></ul></ul><ul><ul><li>Chronic state of anaemia </li></ul></ul>
  5. 5. <ul><li>Genetics </li></ul><ul><li>2 copies of the gene for Hb (each parent) </li></ul><ul><li>HbS –Recessive </li></ul><ul><ul><li>S=Sickle </li></ul></ul><ul><ul><li>A=Normal </li></ul></ul>
  6. 6. <ul><li>Sickle Cell Trait </li></ul><ul><li>Sickle haemoglobin (S) + Normal haemoglobin (A) in RBC </li></ul><ul><ul><li>Adequate amount of normal Hb (A) in red blood cells </li></ul></ul><ul><ul><ul><li>RBC remain flexible </li></ul></ul></ul><ul><ul><ul><li>Carrier </li></ul></ul></ul><ul><ul><ul><li>Do Not have the symptoms of the sickle cell disorders, with 2 exceptions </li></ul></ul></ul><ul><ul><ul><li>Pain when Less Oxygen than usual (scuba diving, activities at high altitude (12,000ft), under general anaesthesia) </li></ul></ul></ul><ul><ul><ul><li>Minute kidney problems </li></ul></ul></ul>
  7. 7. <ul><li>Sickle Cell Anemia </li></ul><ul><ul><li>Sickle haemoglobin (HbS) + Sickle haemoglobin (HbS) </li></ul></ul><ul><ul><li>Most Severe – No HbA </li></ul></ul>Three common types of Sickle Cell Disorders
  8. 8. Other Sickling Disorders <ul><li>Other types of Hb combine with sickle Hb </li></ul><ul><li>Hemoglobin S-C disease </li></ul><ul><ul><li>Sickle haemoglobin (HbS) + (HbC) </li></ul></ul><ul><li>Hemoglobin S-Beta thalassemia </li></ul><ul><ul><li>Beta thalassaemia gene reduces the amount of HbA that can be made </li></ul></ul><ul><ul><li>Sickle haemoglobin (HbS) + reduced HbA </li></ul></ul><ul><ul><li>Milder form of Sickle Cell Disorder than sickle cell anemia </li></ul></ul>
  9. 9. Some Genetic History <ul><li>The error in the hemoglobin gene results from a genetic mutation that occurred many thousands of years ago in people in parts of Africa, the Mediterranean basin, the Middle East, and India. </li></ul><ul><li>A deadly form of malaria was very common at that time </li></ul><ul><ul><li>Malaria epidemics caused the death of many </li></ul></ul><ul><ul><li>In areas where malaria was a problem, children who inherited one sickle hemoglobin gene and who, therefore, carried the sickle cell trait - had a survival advantage . </li></ul></ul><ul><ul><li>Unlike the children who had normal hemoglobin genes, they survived the malaria epidemics they grew up, had their own children, and passed on the gene- for sickle hemoglobin. </li></ul></ul>
  10. 10. Sickle Cell Gene Severe Malaria
  11. 11. <ul><li>As populations migrated, the sickle cell-mutation spread to other Mediterranean areas, further into the Middle East and eventually into the Western Hemisphere. </li></ul><ul><li>In the United States and other countries where malaria is not a problem, the sickle hemoglobin gene no longer provides a survival advantage. </li></ul><ul><li>Instead, it may be a serious threat to the carrier's children, who may inherit two abnormal sickle hemoglobin genes and have sickle cell anemia. </li></ul>History
  12. 12. <ul><li>Most common in Africans and African Americans. </li></ul><ul><li>East Asia, Southern Italy, Saudi Arabia, India, Egypt, South and Central American, Cuba, the Caribbean, Greece, and Iran, and Eastern Jews have also been found to have a form of this illness. </li></ul>Who is at risk?
  13. 13. Prevalence <ul><li>More than 2.5 million Americans have the trait </li></ul><ul><li>70,000 or more Americans have sickle cell disease </li></ul><ul><li>About 1,000 babies are born with the disease each year in America </li></ul><ul><ul><li>In Nigeria, 1/3 population of U.S., 45,000-90,000 babies with sickle cell disease are born each year </li></ul></ul>
  14. 14. <ul><li>Among African - Americans </li></ul><ul><li>1 in 12 have Sickle Cell Trait (Hb SA) </li></ul><ul><li>1 in 600 have Sickle Cell Anemia (Hb SS) </li></ul><ul><li>1 in 1500 have Sickle C Disease (Hb SC) </li></ul><ul><li>1 in 350 have Sickle Cell Disease (Hb SS, SC, S-Beta-Thal) </li></ul><ul><li>Among Latinos </li></ul><ul><li>1 in 172 have Sickle Cell Trait (Hb AS) </li></ul><ul><li>1 in 1,000 have Sickle Cell Disease (Hb SS, SC, S-Beta-Thal) </li></ul>
  15. 15. Screening <ul><li>Haemoglobin Electrophoresis </li></ul><ul><ul><li>Simple Blood test </li></ul></ul><ul><ul><li>Routine screening in high risk groups </li></ul></ul><ul><ul><ul><ul><li>During pregnancy </li></ul></ul></ul></ul><ul><ul><ul><ul><li>Before anaesthesia </li></ul></ul></ul></ul><ul><li>Prenatal Testing </li></ul><ul><ul><li>Amniocentesis </li></ul></ul><ul><ul><ul><li>16 and 18 weeks of the pregnancy </li></ul></ul></ul><ul><ul><ul><li>small risk of causing a miscarriage (1 in 100) </li></ul></ul></ul><ul><ul><li>Chorionic villus sampling (CVS) </li></ul></ul><ul><ul><ul><li>9th or 10th week of pregnancy </li></ul></ul></ul><ul><ul><ul><li>very small amount of material from the developing placenta </li></ul></ul></ul><ul><ul><ul><li>slightly higher chance of miscarriage </li></ul></ul></ul>
  16. 16. Early Symptoms and Complications <ul><li>Typically appear during infant's first year </li></ul><ul><ul><ul><li>1 st symptom: dactylitis and fever (6 mo-2 yrs) </li></ul></ul></ul><ul><ul><ul><li>Pain in the chest, abdomen, limbs and joints </li></ul></ul></ul><ul><ul><ul><li>Enlargement of the heart, liver and spleen nosebleeds </li></ul></ul></ul><ul><ul><ul><li>Frequent upper respiratory infections </li></ul></ul></ul><ul><ul><ul><li>Chronic anemia as children grow older </li></ul></ul></ul><ul><li>Over time Sickle Cell sufferers can experience damage to organs such as liver, kidney, lungs, heart and spleen </li></ul><ul><li>Can result in death </li></ul>
  17. 17. Medical Complications <ul><li>pain episodes </li></ul><ul><li>strokes </li></ul><ul><li>increased infections </li></ul><ul><li>leg ulcers </li></ul><ul><li>bone damage </li></ul><ul><li>yellow eyes or jaundice </li></ul><ul><li>early gallstones </li></ul><ul><li>lung blockage </li></ul><ul><li>kidney damage and </li></ul><ul><li>loss of body water in urine </li></ul><ul><li>painful erections in men (priapism) </li></ul><ul><li>blood blockage in the spleen or liver (sequestration) </li></ul><ul><li>eye damage </li></ul><ul><li>low red blood cell counts (anemia) </li></ul><ul><li>delayed growth </li></ul>
  18. 18. <ul><li>Infectious complications </li></ul><ul><ul><li>Prominent early in life </li></ul></ul><ul><ul><li>Leading cause of morbidity and mortality </li></ul></ul><ul><ul><li>Great improvement in the prognosis related to newborn screening for sickle cell disease, vaccination for childhood illnesses, the use of prophylactic antibiotics, and aggressive diagnosis and treatment of febrile events </li></ul></ul><ul><li>Acute splenic sequestration </li></ul><ul><ul><li>Episodes of rapid increase in splenic size and decrease in hemoglobin </li></ul></ul><ul><ul><li>Potential source of morbidity and mortality early in life for children with sickle cell anemia and at any age for those with Hb SC disease and sickle thalassemia </li></ul></ul>Serious Complications
  19. 19. <ul><li>Strokes </li></ul><ul><ul><li>Up to 15% of children may have overt or silent strokes during childhood </li></ul></ul><ul><ul><li>Chronic transfusion therapy reduces the recurrence rate of overt stroke which may approach 75% without intervention </li></ul></ul><ul><li>Bone disease </li></ul><ul><ul><li>Early risk is primarily from osteomyelitis </li></ul></ul><ul><ul><ul><li>Infectious usually painful inflammatory disease of bone often of bacterial origin and may result in bone tissue death </li></ul></ul></ul><ul><ul><li>Avascular necrosis of the femur and humerus </li></ul></ul><ul><ul><ul><li>Death of bone tissue due to disrupted blood supply </li></ul></ul></ul><ul><ul><ul><li>Marked by severe pain in the affected region and by weakened bone that may flatten and collapse </li></ul></ul></ul>Serious Complications
  20. 20. Serious Complications <ul><li>Leg ulcers </li></ul><ul><ul><li>Seen in patients older than 10 years of age </li></ul></ul><ul><ul><li>Resistant to therapy and cause significant morbidity </li></ul></ul><ul><li>Ophthalmic complications </li></ul><ul><ul><li>Proliferative retinopathy, vitreous hemorrhage, & retinal detachment </li></ul></ul><ul><li>Priapism </li></ul><ul><ul><li>Distressing complication that occurs at all ages </li></ul></ul><ul><ul><li>Difficult to treat </li></ul></ul><ul><ul><li>Causes a high incidence of impotence </li></ul></ul><ul><li>Chronic Anemia </li></ul><ul><ul><li>Associated with fatigue, irritability, jaundice, pain, delayed puberty, leg sores, eye problems, gum disease </li></ul></ul>
  21. 21. Serious Complications: PAIN Recurrent Pain Episodes or Sickling Crises <ul><li>Occur at any age but appear to be particularly frequent during late adolescence and early adult life </li></ul><ul><ul><li>Unpredictable </li></ul></ul><ul><ul><li>Red Blood Cells get stuck in the small veins and prevent normal blood flow </li></ul></ul><ul><ul><li>Characterized by severe pain in the back, chest, abdomen, extremities, and head </li></ul></ul><ul><ul><li>Highly disruptive to life </li></ul></ul><ul><ul><li>Most common reasons for individuals to seek health care </li></ul></ul>
  22. 22. <ul><li>Fever </li></ul><ul><li>Chest pain </li></ul><ul><li>Shortness of Breath </li></ul><ul><li>Increasing tiredness </li></ul><ul><li>Abdominal swelling </li></ul><ul><li>Unusual headache </li></ul>Danger Signs of a Crisis <ul><li>Any sudden weakness or </li></ul><ul><li>loss of feeling </li></ul><ul><li>Pain that will not go away </li></ul><ul><li>with home treatment </li></ul><ul><li>Priapism (painful erection </li></ul><ul><li>that will not go down) </li></ul><ul><li>Sudden vision change </li></ul>SEEK URGENT HOSPITAL TREATMENT IF IN CRISIS
  23. 23. Crises <ul><li>During a crisis </li></ul><ul><ul><li>severe pain in the fingers, toes, </li></ul></ul><ul><ul><li>arms, joints,legs, back, abdomen, and bones. </li></ul></ul><ul><li>Decrease in oxygen to the chest and lungs </li></ul><ul><ul><li>May lead to acute chest syndrome </li></ul></ul><ul><ul><ul><li>Damage to the lungs </li></ul></ul></ul><ul><ul><ul><ul><li>Severe pain and fever </li></ul></ul></ul></ul><ul><ul><ul><ul><li>Lungs' airways narrow, further reducing O 2 </li></ul></ul></ul></ul><ul><ul><ul><li>Leads to an increased risk of potentially </li></ul></ul></ul><ul><ul><ul><li>fatal infections </li></ul></ul></ul>
  24. 24. <ul><li>Infections </li></ul><ul><li>Thirst and dehydration caused by not drinking enough even if thirst is not felt </li></ul><ul><li>Over-exertion </li></ul><ul><li>Over-excitement </li></ul><ul><li>Cold weather and cold drinks and swimming </li></ul><ul><li>Bangs, bumps, bruises and strains </li></ul><ul><li>Stress triggers pain in adults, but does not seem to do so in children. </li></ul>Triggers of Pain
  25. 25. <ul><li>Children and families can often tell when a severe sickle pain is coming on by </li></ul><ul><li>Thirst </li></ul><ul><li>Eyes turning yellow (jaundice), </li></ul><ul><li>Sufferer being more irritable or tired than usual. </li></ul>Predicting Pain
  26. 26. Alleviating Pain <ul><li>Warmth: increases blood flow </li></ul><ul><li>Massaging and rubbing </li></ul><ul><li>Heat from hot water bottles and deep heat creams </li></ul><ul><li>Bandaging to support the painful region </li></ul><ul><li>Resting the body </li></ul><ul><li>Cognitive Behavioral Therapy </li></ul><ul><li>Getting the sufferer to relax </li></ul><ul><ul><li>deep breathing exercises </li></ul></ul><ul><ul><li>distracting the attention </li></ul></ul><ul><ul><li>by other psychological methods. </li></ul></ul><ul><li>Pain-killing medicines (analgesics): paracetamol, codeine non-steroidal anti-inflammatory, morphine if necessary </li></ul>
  27. 27. <ul><li>Taking the folic acid (folate) daily to help make new red cells </li></ul><ul><li>Daily penicillin until age six to prevent serious infection </li></ul><ul><li>Drinking plenty of water daily (8-10 glasses for adults) </li></ul><ul><li>Avoiding too hot or too cold temperatures </li></ul><ul><li>Avoiding over exertion and stress </li></ul><ul><li>Getting plenty of rest </li></ul><ul><li>Getting regular check-ups from knowledgeable health care providers </li></ul>Daily Preventative Measures
  28. 28. Treating Complications <ul><li>Pain-killing drugs and oral and intravenous fluids </li></ul><ul><ul><li>To reduce pain and prevent complications. </li></ul></ul><ul><li>Transfusions </li></ul><ul><ul><li>Correct anemia </li></ul></ul><ul><ul><li>Treat spleen enlargement in children before the condition becomes life-threatening </li></ul></ul><ul><ul><li>Regular transfusion therapy also can help prevent recurring strokes in children at high risk of crippling nervous system complications. </li></ul></ul>
  29. 29. Psychosocial Issues <ul><li>Require regular medical attention </li></ul><ul><ul><li>Especially before and after operations, dental extraction and during pregnancy. </li></ul></ul><ul><li>Adherence to medical regimen </li></ul><ul><ul><li>Vitamins, antibiotics, fluid intake, activity level </li></ul></ul><ul><li>Schools must be involved </li></ul><ul><li>Family planning </li></ul><ul><li>Suitable types of employment </li></ul><ul><li>Air travel </li></ul><ul><ul><li>Increased fluids, pain killers or oxygen may be recommended </li></ul></ul>
  30. 30. <ul><li>Child should be encouraged to participate in sports, but not pushed passed their limitations </li></ul><ul><ul><li>If they are in pain or feel tired they should be allowed to rest and keep warm. </li></ul></ul><ul><ul><li>They should have access to drinks. </li></ul></ul><ul><ul><li>Strenuous exercise, dehydration and cold can induce a crisis. </li></ul></ul><ul><ul><li>Strenuous outdoor activities should be avoided in cold or wet weather </li></ul></ul><ul><ul><li>Should only swim if the water is warm and care is taken to keep warm when leaving the water </li></ul></ul><ul><ul><ul><li>If develops a crisis despite these precautions he or she should avoid swimming all together </li></ul></ul></ul>Psychosocial Issues
  31. 31. <ul><li>Child Specific Issues: Coping with Pain </li></ul><ul><ul><li>Pain happens more often </li></ul></ul><ul><ul><ul><li>On an average of one third of all days </li></ul></ul></ul><ul><ul><li>Lasts longer </li></ul></ul><ul><ul><ul><li>Generally all day, even if not continuously all day </li></ul></ul></ul><ul><ul><li>Associated with great tiredness about half the time </li></ul></ul><ul><ul><li>Causes them to spend significant time in bed </li></ul></ul><ul><ul><li>On average the time spent wholly or partly in bed adds up to about a week of every school term. </li></ul></ul>Psychosocial Issues
  32. 32. <ul><li>Variability and Unpredictability </li></ul><ul><ul><li>Some are mildly affected and largely free from pain, while others have frequent and severe pain </li></ul></ul><ul><ul><li>Most children go through good and bad patches </li></ul></ul><ul><ul><li>Doctors cannot predict who will be severely affected. </li></ul></ul><ul><li>No easily overt detectable signs of sickle pain </li></ul><ul><ul><li>So children known to have sickle cell disorder who say they are in pain must be trusted </li></ul></ul><ul><ul><li>If they can rely on the adults around them to take them seriously, they are less likely to take advantage of their condition to seek attention or avoid distasteful tasks. </li></ul></ul>Psychosocial Issues
  33. 33. <ul><li>To reduce risk of crisis, children are encouraged to drink much more than normal and more frequently </li></ul><ul><ul><li>May require about 1/4 litre of liquid every 60 - 90 minutes. </li></ul></ul><ul><ul><li>Child will need to go to the toilet more frequently </li></ul></ul><ul><ul><li>May increase risk of Enuresis </li></ul></ul><ul><li>Boys at risk for priapism </li></ul><ul><ul><li>May be too embarrassed to mention to parents </li></ul></ul><ul><ul><li>Severe sickling can lead to impotence </li></ul></ul>Psychosocial Issues
  34. 34. <ul><li>Hydroxyurea </li></ul><ul><ul><li>The first effective drug treatment for adults with severe sickle cell anemia reported in early 1995 </li></ul></ul><ul><ul><li>Daily doses of the anticancer drug, hydroxyurea, reduced the frequency of painful crises, acute chest syndrome, needed fewer blood transfusions </li></ul></ul><ul><ul><li>Increases production of fetal hemoglobin in the blood </li></ul></ul><ul><ul><ul><li>Fetal hemoglobin seems to prevent sickling of red cells </li></ul></ul></ul><ul><ul><ul><li>cells containing fetal hemoglobin tend to survive longer in the bloodstream </li></ul></ul></ul>Developing Treatments
  35. 35. <ul><li>Bone marrow transplantation </li></ul><ul><ul><li>Shown to provide a cure for severely affected children with sickle cell disease </li></ul></ul><ul><ul><li>Only about 18 percent of children with sickle cell anemia are likely to have a matched sibling. </li></ul></ul>Developing Treatments
  36. 36. <ul><li>The Ultimate Cure? </li></ul><ul><li>Gene Therapy </li></ul><ul><li>Correcting the “defective gene” and inserting it into the bone marrow </li></ul><ul><li>Turning off the defective gene and simultaneously reactivating another gene that turns on production of fetal hemoglobin. </li></ul><ul><li>No real cure for Sickle Cell Anemia at this time. </li></ul><ul><li>“ In the past 30 years, the life expectancy of people with sickle cell anemia has increased. Many patients with sickle cell anemia now live into their mid-forties and beyond.” </li></ul>
  37. 37. Websites http://www.sicklecellsociety.org/ : Another Great Site information, Counselling and Caring for those with Sickle Cell Disorders and their families: UK based http://www.sicklecelldisease.org/ : Sickle Cell Disease Association of America The Human Genome Project Sickle Cell Education Site at http://www.massinteraction.org/html/genome/ http:// www.ascaa.org / American Sickle Cell Anemia Association ASCAA was founded in 1971 and is the oldest sickle cell research, education, and social services organization in the United States. http:// www.ncd.gov / http:// www.painfoundation.org /  
  38. 38. Sites for Kids http://www.sicklecellsociety.org/sicklescene/pshomf.htm Planet Sickle Cell Society (UK based) -Youth support, Poetry, Pen-Pals, Information, Message Board http://www.starbright.org/ The STARBRIGHT Foundation is dedicated to the development of projects that empower seriousl ill children to combat the medical and emotional challenges they face on a daily basis. Coloring Books on Sickle Cell from Emory: http://www.emory.edu/PEDS/SICKLE/bbc/index.htm http://www.emory.edu/PEDS/SICKLE/chelate/index.htm
  39. 39. Support Group Information: Florida, Jacksonville: Sickle Cell Support Groups (904) 549-4472 Georgia, Atlanta: Parent SC Support Group (404) 616-4395

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