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Sickle Cell Anemia

Sickle Cell Anemia. BY: SARA ELGHARABLI. What is Sickle Cell Anemia?. a non-contagious, hereditary disorder affecting the hemoglobin a blood disorder inherited as an autosomal recessive trait Hemoglobin is the oxygen-carrying substance in red blood cells

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Sickle Cell Anemia

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  1. Sickle Cell Anemia BY: SARA ELGHARABLI

  2. What is Sickle Cell Anemia? • a non-contagious, hereditary disorder affecting the hemoglobin • a blood disorder inherited as an autosomal recessive trait • Hemoglobin is the oxygen-carrying substance in red blood cells • Normal Hemoglobin is Hb A, Sickle cell Anemia occurs when an abnormal form defect of Hemoglobin, Hb S is produced Causes- • Caused by a single amino-acid replacement in the β chains of this macromolecule • make the red cells stiff and fragile and a sickle shape • Red blood cells are produced inside the bone marrow • The normal red blood cells survive a 120-life span, but sickle cells only last 10-12 days and die http://www.academic.marist.edu/~jzmz/HematologyI/Description24.jpg

  3. History • Centuries ago this disorder have been taken peoples lives; having no treatment until the 20th Century • 1910, James B. Herrick was the first person to publish medical report on sickle cell anemia • 1956-Vernon Ingram and J.A. Hunt sequenced sickle hemoglobin and showed that a glutamic acid at position 6 was replaced by a valine in sickle hemoglobin. (cause of sickle cell) • 1970s was sickle cell recognized as a serious illness that needed attention • commonly known as “black disease” • Mediterranean region, the Caribbean, Middle East, and India, most commonly Africa. • 1995-Hydroxyurea became the first (and only) drug proven to aid the complications of sickle cell anemia http://clendening.kumc.edu/dc/pc/herrick02.jpg http://images.google.ca/imgres?imgurl=http://bill.srnr.arizona.edu/classes/182/GeneFreqs/map_of_sickle_cell_frequencies.gif&imgrefurl=http://bill.srnr.arizona.edu/classes/182/GeneFreqs/Sickle.htm&h=236&w=352&sz=6&hl=en&start=5&tbnid=

  4. SICKLE CELL ANEMIA & MALARIA Malaria-is a disease caused by blood-borne parasites transmitted through mosquito bites. This parasite is carried by the Anopheles mosquito. • The areas of the world associated with the sickle cell trait are also strongly affected by malaria. • observed that blood from malaria patients who had sickle cell trait had fewer malarial parasites than blood from patients without the trait • fewer cases of severe malaria among people with sickle cell trait than among those without it • normally stable red cells of someone with the sickle cell trait can sickle in a low oxygen environment (like the veins). When invaded by the malarial parasite; the sickling process destroys the invading organism and prevents it from spreading through the body. http://images.google.ca/imgres?imgurl=http://evolution.berkeley.edu/evolibrary/images/history/sicklecell_map.gif&imgrefurl=http://evolution.berkeley.edu/evolibrary/article/_0/history_19&h=147&w=151&sz=3&hl=en&start=19&tbnid=unnG3n0WbW1v3M:&tbnh=93&tbnw=96&prev=/images%3Fq%3Dsickle%2Bcell%2Banemia%2Band%2Bmalaria%26svnum%3D10%26hl%3Den%26lr%3D%26sa%3DN Distribution of Malaria Distribution of Sickle-Cell Anemia

  5. Effects and Symptoms • Male and females are affected equally • Delayed growth and development • Hand-Foot Syndrome • Eye Problems • Acute Chest Syndrome • symptoms in childhood • septicemia (bacterial blood infections) • meningitis (bacterial brain infections) • Pneumonia • Stroke, chronic anemia (fatal) • common symptoms in teenagers • jaundice • delayed puberty • Emergency symptoms • painful episodes • Aplastic crisis http://www.doh.wa.gov/EHSPHL/PHL/Newborn/images/aplasti2.jpg

  6. http://www.thefetus.net/images/article-images/musculoskeletal/split_hand-foot_elke_files/ectro%206.jpghttp://www.thefetus.net/images/article-images/musculoskeletal/split_hand-foot_elke_files/ectro%206.jpg http://images.google.ca/imgres?imgurl=http://safeoysters.org/medical/sym_2_photo.jpg&imgrefurl=http://safeoysters.org/medical/symptoms.htm&h=281&w=448&sz=22&hl=en&start=5&tbnid=w7VyomGQtVdm0M:&tbnh=80&tbnw=127&prev=/images%3Fq%3Dsepticemia%26ndsp%3D20%26svnum%3D10%26hl%3Den%26lr%3D%26sa%3DN http://images.google.ca/imgres?imgurl=http://www.emedicine.com/radio/images/3193rad0441-18.jpg&imgrefurl=http://www.emedicine.com/RADIO/topic441.htm&h=200&w=197&sz=9&hl=en&start=24&tbnid=8Wwq5p1W7surFM:&tbnh=104&tbnw=102&prev=/images%3Fq%3Dmeningitis%26start%3D21%26svnum%3D10%26hl%3Den%26lr%3D%26sa%3DN http://images.google.ca/imgres?imgurl=http://rad.usuhs.mil/medpix/include/medpix_image.php3%3Fimageid%3D16095&imgrefurl=http://rad.usuhs.mil/medpix/medpix_image.html%3Fmode%3Dquiz%26imid%3D16095%26quiz%3Dno%26comebackto%3Dmode%3Dcaption_list&h=1200&w=987&sz=80&hl=en&start=5&tbnid=zYcwlMabDTI1uM:&tbnh=150&tbnw=123&prev=/images%3Fq%3Dacute%2Bchest%2Bsyndrome%26svnum%3D10%26hl%3Den%26lr%3D http://www.blinn.edu/natscience/phillips/jaundice.JPG

  7. Diagnosis Early diagnosis is important in determining whether the child will have sickle cell anemia or not • Hemglobin Electrophoresis- blood test that looks for Hb S in a person’s blood • The Sodium Metabisulfite Test- sample of blood is taken to identify if the red blood cells sickle • The Sickledox- sample of blood is taken to see if red blood cells burst by hemolysis • Dithionite Test- similar to The Sickledox, but everything is automated • The Technician System- a blood test is taken and solution is read by tracing on graph paper, done by the machine. If person has s.c.a or s.c.t a peak is made in the line • Electrophoresis Test- blood sample is taken to determine if an individual has s.c.a or s.c.t S.C.A detected before birth: • Amniocentesis • Chorionic villus sampling

  8. Treatment • Medication: -Daily oral supplement of folic acid (vitamin) -sickle cell anemia increases body’s need for folic acid • Adolescents and teens: -Take penicillin (antibiotic) to help fight infections -prophylactic antibiotics decrease incidence of invasive pneumococcal blood Infections • Blood Transfusions -transfer of blood from a healthy donor into the bloodstream of somebody who has lost blood or who has a blood disorder (in this case s.c.a) • Fetal hemoglobin -is the main hemoglobin that transports oxygen around the body of the developing baby during the last 7 months of pregnancy -after birth fetal hemoglobin falls to 1-2% - number of painful episodes decreases • Bone Marrow Transplant -healthy bone marrow transplant will produce healthy hemoglobin • Gene therapy -replace the sickle cells with healthy cells from a donor

  9. Prevention S.c.a. cannot be prevented from occurring in an individual however the painful episodes can be helped • balanced diet • additional vitamins help (i.e. folic acid) • drinking lots of fluids (juice or water each hour) • plenty of rest • exercise • avoiding alcohol, or drugs • dress warmly in cold weather

  10. Research and Future ofSickle Cell Anemia • researchers tried to combine hydroxyurea with erythropoietin (growth hormone that stimulates red cell production) • combination increased amount of fetal hemoglobin faster than a high dose of hydroxyurea by itself • Dr. Perrine prepared a compound of arginine butyrate- injected into bloodstream and produced and increase in fetal hemoglobin • Droxia (prescription form of Hydroxyurea) approved in 1998 is now available for adult patients with sickle cell anemia • Researchers at the Sickle cell Disease center of the University of Texas at Dallas are hoping to find a cure for s.c.a as they work with: • Developing joint basic and clinical research efforts as part of the Southwest Sickle Cell Program to improve care for children with sickle cell disease • Establishing a translational gene therapy basic research program

  11. Works Cited • Bowers, R. (2002). Sickle Cell Anemia. Toronto: Addison Wesley. • Bunch, B. (2003) Sickle Cell Anemia. Revised Edition Diseases. (Vol 7, pp1-134). United States: Grolier Educational. • Dawson. D Dawn (2002). Sickle Cell Disease. In Magill’s Medical Guide (Vol. 3, pp. 2087 -2089). Washington Grolier Enterprises. • Larson, D. (1996) Human Diseases and Disorders. New York: William Morrow and Company Inc. • Genetic Disease Profile: Sickle Cell Anemia(2005) Retrieved September 25, 2006 on the World Wide Web: http://www.orhl.gov/sci/techresources/Humna_Genome/posters/chromosome/sca.shtml • History of Sickle Cell Disease.(2006) Retrieved September 24, 2006 on the World Wide Web: http://www.utdallas.edu/research/sickle-cell/About/DiseaseHistory.html • Sickle Cell Anemia.(2004) Retreieved October 19, 2006 on the Wrold Wide Web: http://kidshealth.org/teen/diseases_conditions/blood/sickle_cell_anemia.html • Silverstein, v., Silverstein, A., & Nunn, l. (1997) Diseases and People Sickle Cell Anemia. Springfield, NJ: Enslow Publishers. • What is Sickle Cell Anemia.(2006) Retrieved September 23, 2006 on the World Wide Web: http://www.nhlbi.nih.gov/health/dci/diseases/sca/scA_whatIs.html • What is Sickle Cell Disease? (2005) Retrieved September 23, 2006 on the World Wide Web: http://www.sicklecelldisease.org/about_sad/index.phtml

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