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Diagnosis sickle cell anemia

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Diagnosis sickle cell anemia

  1. 1. ssP.R. JayawickramaD.S. KaluwadugeK.K.G. KandewaththaM. KanchanamalaUNIVERSITY of RUHUNA , FACULTY of MEDICINE.23.11.20121
  2. 2. A four years old boy was brought to the pediatrichospital with a history of severe back pain anduncontrolled vomiting since previous night. FurtherHis mother told that her child was complainingabout some attacks of back pain occurring duringthe past months.On examination patient was pale and spleen waspalpable below the costal margin……!!!!2
  3. 3. In investigation,• Haemoglobin level - decreased• Peripheral blood smear - sickled cells- nucleated RBC-features of microcytichypochromic anaemia• X-ray of the skull – hair on end appearance offrontal bone3
  4. 4. SICKLE CELL ANAEMIA……????Inherited.form of an anaemia as a result of mutation in Hb.RBC sickled or crescent shaped.NOT enough healthy RBC to carry adequateoxygen.4
  5. 5. Normally, humans haveOf these, Haemoglobin A makes up around 96-97%of the normal haemoglobin in humans.HaemoglobinA two alpha two betaA2 two alpha two deltaF two alpha two gamma5
  6. 6. Common types of Sickle CellDisordersType ofanaemiaHemoglobinvariationcommentSickle CellAnemiaSicklehaemoglobin(HbS) + SicklehaemoglobinMost Severe –No HbAHemoglobin S-Beta thalassemiaSicklehaemoglobin(HbS) + reducedHbAMild form ofSickle CellDisorderHemoglobin S-C Sickle Mild form of 6
  7. 7. 7
  8. 8. PathophysiologyIs caused by• point mutation in the β-globin chain of Hbglutamic (hydrophobic amino acid)valine( hydrophilic )• at the 6th positionLife span• RBC 90–120 days• sickle cells 10–20 days.
  10. 10. • exposure to P O2 < 40 mmHg for 2 to 4 minutes• polymerization of Hb• The initiation of polymerization may be-incomplete and-reversible , if re-oxygenation occurs early inthe process.• Repetitive exposure to alternating de-oxygenated and oxygenated states lead to-membrane distortion,-irreversible sickling.
  11. 11. Signs ,symptoms & complications• Anaemia• Episodes of pain• Hand-foot syndrome
  12. 12. • Frequent infections• Vision problems• Delayed growth• Any signs or symptoms of stroke• Enlarged heart and systolic murmurs
  13. 13. Laboratory investigationsComplete blood count Level of Hb -: 6–8 g/dL(Normal range-: Male=13.5-17.5g/dl Female=11.5-15.5g/dl) High reticulocyte count (10–20%).Blood film
  14. 14.  The blood film is microcytic and hypocromicSickled cell anaemia Normal15
  15. 15. 16
  16. 16. Sickle solubility testMixture of Hb S in a reducing solutionGives a turbid appearance(Precipitation of Hb S) Normal Hb gives a clear solution17
  17. 17. 18
  18. 18. ■ Hb electrophoresis• To confirm the diagnosis.• There is,no Hb A80–95% Hb SS2–20% Hb F19
  19. 19. 20
  20. 20. Results of laboratory examination in sickle cell anaemiaLaboratoryexaminationsresults Values in thisdiseaseValues in healthWBC count increased 10000 -30000 5000 -10000RBC count decreased 1 -4 million/mm3 4 -6 million/mm3Hb count decreased 6 -8g/100ml Male=13.5-17.5g/dlFemale=11.5-15.5g/dlHaematocrit reading decreased 10 -30% 45%Reticulocyte count increased 10-40% 1-2%Hb electrophoresis positive HbS & HbF HbAUrine analysis Albumin casts positive negativeSerum bilirubin increased 1-3 mg/100ml 0.2-0.8mg/100mlPlatelet count increased 40000-50000/mm3 150000-400000/mm3Bone marrowexaninationIncreased red cells 40-70% 8-30%21
  21. 21.  Tests to detect sickle cell genes before birth Diagnosed in an unborn baby Sampling amniotic fluid Look for the sickle cell gene22
  22. 22. Hair‐on‐end appearanceX-RAYS23
  23. 23. Hand-foot syndrome24
  24. 24. Chest x-rayAcute chest syndrome25
  25. 25. Bone deformity26
  26. 26. MRI - Osteonecrosis27
  27. 27. REFFERENCES• Kumar & Clark’s clinical medicine, 7th eddition• Ganong’s physiology, 23rd eddition• Quinn CT, et al.: Minor elective surgical procedures using generalanesthesia in children with sickle cell anemia without pre-operativeblood transfusion. Pediatr Blood Cancer 2005; 45:43–7• Marchant WA, Walker I: Anaesthetic management of the child withsickle cell disease. Paediatr Anaesth 2003; 13:473–89.Anesthesiology Problem-oriented Patient Management, 6th ed.2008, pp 980–92.28
  28. 28. ACKNOWLEDGEMENTwe wish to thank our dear sir Dr.MahindaKommalage for all the advices andhis valuable time in completing thispresentation.29
  29. 29. THANK YOU !!!!!!30