Sickle Cell Anemia

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Sickle Cell Anemia

  1. 1. SICKLE CELL ANEMIA PRESENTED BY: HAFSA MARYAM 4 TH YEAR
  2. 2. <ul><li>The African medical literature reported this condition in the 1870’s where it was locally known as ‘ogbanjes’. </li></ul><ul><li>The sickle cells were first explained in 1904 by a Chicago cardiologist, James B. Herrick. </li></ul><ul><li>The disease was named “sickle cell anemia” by Vernon Mason in 1922. </li></ul><ul><li>The association of this disease with alteration of hemoglobin was published in 1949 by Linus Pauling and coworkers. </li></ul><ul><li>Origin of mutation occurred between 3,000 to 6,000 generations ago, approximately 70 to 150,000 years before. </li></ul>HISTORY James B. Herrick
  3. 3. <ul><li>It is a group of disorders that affects hemoglobin. </li></ul><ul><li>People with this disease contain an abnormal hemoglobin called HbS in their RBCs. </li></ul><ul><li>It is an inherited blood disorder, an autosomal recessive disease. </li></ul><ul><li>Sickle cell anemia. </li></ul><ul><li>Sickle hemoglobin C disease. </li></ul><ul><li>Sickle beta plus thalassaemia. </li></ul><ul><li>Sickle beta zero thalassaemia. </li></ul>SICKLE CELL DISEASE TYPES OF SICKLE CELL DISEASE
  4. 4. <ul><li>“ It is a specific type of sickle cell disease in which there is homozygosity for the mutation that causes HbS”. </li></ul>SICKLE CEL ANEMIA OTHER NAMES 1.HbSS disease 2.SS disease
  5. 5. <ul><li>Produced due to the point mutation in hemoglobin beta gene (HBB gene) found at chromosome number 11. </li></ul><ul><li>It results from the substitution of valine for glutamic acid at position 6 of beta-globin gene. </li></ul>HbS
  6. 6. DISTRIBUTION
  7. 7. SICKLE CEEL TRAIT <ul><li>It is an inherited condition in which both HbA and HbS are produced. </li></ul><ul><li>HbA=60% > HbS=40% </li></ul><ul><li>Such individuals are asymptomatic. </li></ul><ul><li>They act as carriers and can transmit the disease to their offspring's. </li></ul>AS
  8. 8. <ul><li>If one parent has sickle cell anemia and other is normal, all children will have sickle cell trait. </li></ul><ul><li>If one parent has sickle cell anemia and other has sickle cell trait there is 50% chance of either with each pregnancy. </li></ul><ul><li>If both parents have sickle cell trait. </li></ul>INHERITENCE Normal Sickle cell trait Sickle cell anemia
  9. 9. <ul><li> Loss of oxygen. </li></ul><ul><li>Polymers or rigid rods leading to sickled RBCs </li></ul><ul><li>RBCs Stick to blood vessels </li></ul><ul><li>Stasis </li></ul><ul><li> Hypoxia </li></ul><ul><li>Pain ( vaso-occlusive crisis) </li></ul>PATHOPHYSIOLOGY
  10. 10. Beta chains bind with other beta chains polymerization VASO-OCCLUSIVE CRISIS
  11. 11. 10-20 days LIFE SPAN OF SICKLE CELLS
  12. 12. <ul><li>People with sickle cell gene who continue to carry some HbF are better protected from severe form of the disease. </li></ul><ul><li>It is able to block the sickling action of the RBCs so infants who have inherited the disease do not develop symptoms. </li></ul>NO SYMPTOMS IN INFANTS ??? HbF
  13. 13. <ul><li>Vaso-occlusive crisis. </li></ul><ul><li>Aplastic crisis </li></ul><ul><li>Splenic sequestration crisis. </li></ul><ul><li>Hemolytic crisis </li></ul>CLINICAL MANIFESTATIONS
  14. 14. <ul><li>Pain </li></ul><ul><li>Autosplenectomy </li></ul><ul><li>Acute chest syndrome </li></ul><ul><ul><ul><li>Fever </li></ul></ul></ul><ul><ul><ul><li>Chest pain </li></ul></ul></ul><ul><ul><ul><li>Hard breathing </li></ul></ul></ul><ul><ul><ul><li>Pulmonary infiltrate </li></ul></ul></ul><ul><ul><ul><li>on chest x-ray. </li></ul></ul></ul>VASO-OCCLUSIVE CRISIS
  15. 15. <ul><li>Pallor </li></ul><ul><li>Tachycardia </li></ul><ul><li>fatigue </li></ul>This crisis is triggered by parvovirus B19 infection. APLASTIC CRISIS
  16. 16. <ul><li>Abdominal pain </li></ul><ul><li>Restlessness </li></ul><ul><li>Fever </li></ul><ul><li>Drowsiness </li></ul><ul><li>Cold extremities </li></ul><ul><li>Liver and spleen increased in size. </li></ul>SEQUESTRATION CRISIS
  17. 17. <ul><li>It is triggered by: </li></ul><ul><li>Malaria </li></ul><ul><li>Septicemia </li></ul><ul><li>Drugs </li></ul><ul><li>Glucose-6 phosphate deficiency </li></ul>HEMOLYTIC CRISIS
  18. 18. <ul><li>Extent of oxygen loss </li></ul><ul><li>Acidity of the environment </li></ul><ul><li>Concentration of HbS in RBC </li></ul><ul><li>Amount of HbF in RBC </li></ul>FACTORS AFFECTING SEVERITY
  19. 19. <ul><li>Abdominal pain </li></ul><ul><li>Bone pain </li></ul><ul><li>Breathlessness </li></ul><ul><li>Delayed growth and puberty </li></ul><ul><li>Fever </li></ul><ul><li>Jaundice </li></ul><ul><li>Rapid heart rate </li></ul><ul><li>Susceptibility to infections. </li></ul>COMMON SYMPTOMS
  20. 20. <ul><li>Sickle pulmonary disease </li></ul><ul><li>Cholelithiasis </li></ul><ul><li>Ophthalmologic complications </li></ul><ul><li>Transfusion related ulcers </li></ul><ul><li>Leg ulcers </li></ul><ul><li>Avascular osteonecrosis e.g., of hip bone. </li></ul><ul><li>Priapism </li></ul><ul><li>Infarction of penis </li></ul><ul><li>Erectile dysfunction </li></ul><ul><li>osteomyelitis </li></ul><ul><li>Acute papillary necrosis of kidney </li></ul><ul><li>Loss of body water in urine </li></ul><ul><li>Anemia </li></ul><ul><li>Delayed growth </li></ul><ul><li>Psychological problem </li></ul>COMPLICATIONS
  21. 21. <ul><li>Splenic sequestration syndrome </li></ul><ul><li>Parvovirus B 19 infection </li></ul><ul><li>Acute chest syndrome </li></ul><ul><li>Over-whelming post auto-splenectomy infections. </li></ul><ul><li>Stroke </li></ul><ul><li>Decreased immune reactions </li></ul><ul><li>Intrauterine growth retardation </li></ul><ul><li>Abortion </li></ul><ul><li>Congestive cardiac failure </li></ul><ul><li>Chronic renal failure </li></ul>COMPLICATIONS
  22. 22. SYMPTOMS Pain Visual blurring Neurological symptoms Syncope Infection Neck stiffness and headache Weakness and pallor Family Hx and Hx of transfusion Dactylitis Leg ulcers Jaundice
  23. 23. Dactylitis Dying tissue of leg Leg ulcer Small remnant of spleen Conditions
  24. 24. <ul><li>Peripheral smear </li></ul><ul><li>Sickling test </li></ul><ul><li>Hb electrophoresis </li></ul><ul><li>PCR </li></ul>DIAGNOSIS
  25. 25. <ul><li>Sickle cells </li></ul><ul><li>Target cell </li></ul><ul><li>Normochromic </li></ul><ul><li>Anisocytosis </li></ul><ul><li>Poikilocytosis </li></ul><ul><li>Howell jolly bodies </li></ul>TYPES OF CELLS IN SMEAR RBC MORPHOLOGY Sickle cell Target cell Howell jolly body
  26. 26. <ul><li> USE </li></ul><ul><li>It is a qualitative test. </li></ul><ul><li>This test is used to identify HbS erythrocytes. </li></ul>SICKLING TEST Cells with HbS Cells with HbA <ul><li>METHOD </li></ul><ul><li>2drops of 2% sodium metabisulphite </li></ul><ul><li> + </li></ul><ul><li>1drop of blood </li></ul><ul><li>observed at 15 and 30 minutes. </li></ul>
  27. 27. <ul><li> USE: </li></ul><ul><li>It is a quantitative test. </li></ul><ul><li>It not only confirms the presence of HbS but also quantifies it. </li></ul>Hb ELECTROPHORESIS Sickle cell anemia normal Sickle cell trait AFSC
  28. 28. <ul><li>Chest radiography </li></ul><ul><li>Bone radiography </li></ul><ul><li>Ultrasonography </li></ul><ul><li>Bone scans </li></ul><ul><li>Head CT or MRI </li></ul>IMAGING STUDIES: Pneumonia Or Acute chest syndrome
  29. 29. Avascular necrosis of hip bone Marrow expansion
  30. 30. <ul><li>Pain management </li></ul><ul><li>Blood transfusion </li></ul><ul><li>Drugs </li></ul><ul><li>Bone marrow transplantation </li></ul>TREATMENT
  31. 31. <ul><li>Patients receiving proper medical care may learn to lead relatively normal life </li></ul><ul><li>Average life expectancy of patients suffering from is </li></ul><ul><ul><li>Male = 42 years </li></ul></ul><ul><ul><li>Female = 48 years </li></ul></ul>PROGNOSIS
  32. 32. <ul><li>Genetic screening </li></ul><ul><li>Testing for sickle cells in babies. </li></ul><ul><ul><ul><li>Chronic vill sampling </li></ul></ul></ul><ul><ul><ul><li>Amniotic fluid sampling </li></ul></ul></ul><ul><ul><ul><li>Fetal blood samplin </li></ul></ul></ul><ul><li>Daily penicillin for newborn babies with the disease. </li></ul>PREVENTION
  33. 33. THANK YOU!

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