Diagnosis sickle cell anemia

1. ss DIAGNOSIS OF SICKLE CELL ANAEMIA P.R. Jayawickrama D.S. Kaluwaduge K.K.G. Kandewaththa M. Kanchanamala UNIVERSITY of RUHUNA , FACULTY of MEDICINE. 23.11.2012 1

2. A four years old boy was brought to the pediatric hospital with a history of severe back pain and uncontrolled vomiting since previous night. F urther His mother told that her child was complaining about some attacks of back pain occurring during the past months. On examination patient was pale and spleen was palpable below the costal margin……!!!! 2

3. In investigation, Haemoglobin level - decreased Peripheral blood smear - sickled cells - nucleated RBC -features of microcytic hypochromic anaemia X-ray of the skull – hair on end appearance of frontal bone 3

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 adequate oxygen. 4

5. Normally, humans have Of these, Haemoglobin A makes up around 96-97% of the normal haemoglobin in humans. Haemoglobin A two alpha two beta A2 two alpha two delta F two alpha two gamma 5

6. Common types of Sickle Cell Disorders Type of anaemia Hemoglobin variation comment Sickle Cell Anemia Sickle haemoglobin (HbS) + Sickle haemoglobin Most Severe – No HbA Hemoglobin S-Beta thalassemia Sickle haemoglobin (HbS) + reduced HbA Mild form of Sickle Cell Disorder Hemoglobin S-C disease Sickle haemoglobin (HbS) + (HbC) Mild form of Sickle Cell Disorder Sickle Cell Trait Sickle haemoglobin (S) + Normal haemoglobin (A) 6

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8. Pathophysiology Is caused by point mutation in the β- globin chain of Hb glutamic (hydrophobic amino acid) valine ( hydrophilic ) at the 6 th position Life span RBC 90–120 days sickle cells 10–20 days.

9. OXY-STATE DEOXY-STATE

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 in the process. Repetitive exposure to alternating de-oxygenated and oxygenated states lead to -membrane distortion, -irreversible sickling .

11. Signs ,symptoms & complications Anaemia Episodes of pain Hand-foot syndrome

12. Frequent infections Vision problems Delayed growth Any signs or symptoms of stroke Enlarged heart and systolic murmurs

13. Laboratory investigations C omplete blood count L evel of Hb -: 6–8 g/ dL (Normal range-: Male=13.5-17.5g/dl Female=11.5-15.5g/dl ) H igh reticulocyte count (10–20%). Blood film

14. The blood film is microcytic and hypocromic Sickled cell anaemia Normal 15

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16. Sickle solubility test M ixture of Hb S in a reducing solution Gives a turbid appearance (Precipitation of Hb S) N ormal Hb gives a clear solution 17

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18. ■ Hb electrophoresis T o confirm the diagnosis. There is, no Hb A 80–95% Hb SS 2–20% Hb F 19

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20. Results of laboratory examination in sickle cell anaemia Laboratory examinations results Values in this disease Values in health WBC count increased 10000 -30000 5000 -10000 RBC count decreased 1 -4 million/mm 3 4 -6 million/mm 3 Hb count decreased 6 -8g/100ml Male=13.5-17.5g/dl Female=11.5-15.5g/dl Haematocrit reading decreased 10 -30% 45% Reticulocyte count increased 10-40% 1-2% Hb electrophoresis positive HbS & HbF HbA Urine analysis Albumin casts positive negative Serum bilirubin increased 1-3 mg/100ml 0.2-0.8mg/100ml Platelet count increased 40000-50000/mm 3 150000-400000/mm 3 Bone marrow exanination Increased red cells 40-70% 8-30% 21

21. Tests to detect sickle cell genes before birth D iagnosed in an unborn baby Sampling amniotic fluid L ook for the sickle cell gene 22

22. Hair‐on‐end appearance X-RAYS 23

23. Hand-foot syndrome 24

24. Chest x-ray Acute chest syndrome 25

25.  Bone deformity 26

26. MRI - Osteonecrosis   27

27. REFFERENCES Kumar & Clark’s clinical medicine, 7 th eddition Ganong’s physiology, 23 rd eddition Quinn CT, et al.: Minor elective surgical procedures using general anesthesia in children with sickle cell anemia without pre-operative blood transfusion. Pediatr Blood Cancer 2005; 45:43–7 Marchant WA, Walker I: Anaesthetic management of the child with sickle cell disease. Paediatr Anaesth 2003; 13:473–89 . Anesthesiology Problem-oriented Patient Management, 6th ed. 2008, pp 980–92. 28

28. ACKNOWLEDGEMENT we wish to thank our dear sir Dr.Mahinda Kommalage for all the advices and his valuable time in completing this presentation . 29

29. THANK YOU !!!!!! 30