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6..sickle cell anemia


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6..sickle cell anemia

  1. 1. SickleCellAnemiaDr. Rafi Ahmed GhoriFCPSProfessor MedicineLiaquat University of Medical & HealthSciences, Jamshoro
  2. 2. What We Will Learn?• What sickle cell anemia is.• Who worked to understand sickle cell anemia.• Who is affected by sickle cell anemia.• What the symptoms of sickle cell anemia are.• What the causes of sickle cell anemia are.• What the effects of sickle cell anemia are.• If there is a cure for sickle cell anemia.
  3. 3. What isSickleCellAnemia?
  4. 4. SickleCell Anemia• Sickle cell anemia is a genetic disorder ofthe blood in which the red blood cells curveinto a sickle shape due to hemoglobin S.• This shape change blocks them from goingthrough tiny blood vessels (capillaries) andthey clot your blood or break. If they break,it leads to a insufficient amount of red bloodcells, or anemia.
  5. 5. Who Worked toUnderstand SickleCell Anemia?
  6. 6. William Warrick Cardozo• Lived from 1905-1962• In 1937 he concluded that the disease isinherited and almost always occurs inpeople of African descent.• His works were published in theArchives of Internal Medicine as“Immunologic Studies in Sickle CellAnemia.”
  7. 7. Max F. Perutz• He constructed a model of hemoglobinthat later helped prove how themolecule’s structure changes when itreacts with oxygen.• His work helped explain why thechange in hemoglobin’s shape causesthe red blood cells to sickle and lessentheir oxygen-carrying capacity.
  8. 8. Who isAffected bySickleCell Anemia?
  9. 9. Carriersof SickleCellAnemia• Everybody can inherit the sickle celltrait if both their parents have the trait.• Hemoglobin S is particularly commonin African Americans, about 8 to 12%have the trait.• The trait is also common in peoplefrom Mediterranean countries, theMiddle East and India.
  10. 10. Carriers(continued)• Hemoglobin S is common in thepopulations mentioned due to the factthat carries of sickle cell anemia aremore likely to live through a case ofmalaria.• Because of this, more and more ofthose populations are getting the sicklecell anemia trait from their parents.
  11. 11. What aretheSymptomsof SickleCell Anemia?
  12. 12. Symptomsof SickleCellAnemia• Symptoms may appear as early as 6months of age.• Early symptoms include seriousinfections, pain and swelling of thehands and feet, and enlargement ofthe abdomen and heart.
  13. 13. What AreTheCausesof SickleCell Anemia?
  14. 14. Causesof SickleCell Anemia• Sickle cell anemia is caused by thehemoglobin S gene.• Both parents must have the trait for there tobe a chance of their child getting sickle cellanemia.• If you have one hemoglobin S, and onehemoglobin A (hemoglobin AS) you willNOT get sickle cell anemia, because it is arecessive trait.
  15. 15. Causes(continued)• If and when you get sickle cell anemia,the hemoglobin S gene causes the redblood cell to sickle when it gets rid of alarge amount of oxygen.• The hemoglobin S causes long, rigidrods to form in the red blood cell whenit gives away oxygen. That is why thecell sickles.
  16. 16. What AreTheEffectsof SickleCell Anemia?
  17. 17. Effectsof SickleCell Anemia• There are 13 main effects of sickle cellanemia. They are:– Pain episodes– Insufficient amounts of red blood cells(anemia)– Strokes– Increased infections– Leg ulcers– Bone damage
  18. 18. Effects(continued)– Yellow eyes or yellowish skin– Early gallstones– Lung blockage– Kidney damage– Blood blockage in the spleen or liver– Eye damage– Delayed growth
  19. 19. IsThereaCureFor SickleCellAnemia?
  20. 20. Treatment for SickleCellAnemia• There is no definite cure for sickle cell anemia,but you can get it treated.• All treatment of sickle cell anemia is gearedtoward preventing infection, reducing organdamage, and minimizing all pain ordiscomfort.• If you are diagnosed early, some of the effectslike severe infections, can be prevented withantibiotics and vaccinations.
  21. 21. Treatment (continued)• Daily treatment with the cancer drughydroxyurea has been proven to reduce thenumber of pain episodes and the severity ofthe anemia.• Regular blood transfusions help restore thenumber of red blood cells, and make it lesslikely that you will have a stroke.
  22. 22. Treatment (continued)• The only proven cure worked on but ahandful of small children.• These children were able to find anacceptable bone marrow donor.• This new bone marrow was able toproduce new red blood cells that didn’tcarry the sickle cell anemia trait.
  23. 23. Thank you for watching.