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Diagnosis sickle cell anemia
A 4-year-old boy presented with severe back pain and vomiting. Examination found pallor and spleen enlargement. Tests showed decreased hemoglobin, sickled red blood cells, and hair-on-end skull appearance consistent with sickle cell anemia. Sickle cell anemia is an inherited blood disorder caused by a mutation causing hemoglobin to sickle and break down red blood cells early, resulting in anemia. Common complications include pain crises, infections, and organ damage. Diagnosis is confirmed by hemoglobin electrophoresis showing elevated hemoglobin S.
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Diagnosis sickle cell anemia
- 1. ss 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 yearsold boy was brought to the pediatric hospital with a history of severe back pain and uncontrolled vomiting since previous night. Further 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, • Haemoglobinlevel - 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. formof 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 Ofthese, 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 ofSickle 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 Sickle Mild form of 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 6th position Life span • RBC 90–120 days • sickle cells 10–20 days.
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- 10. • exposure toP 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.
- 12. Signs ,symptoms &complications • Anaemia • Episodes of pain • Hand-foot syndrome
- 13. • Frequent infections •Vision problems • Delayed growth • Any signs or symptoms of stroke • Enlarged heart and systolic murmurs
- 14. Laboratory investigations Complete bloodcount 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
- 15. The bloodfilm is microcytic and hypocromic Sickled cell anaemia Normal 15
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- 17. Sickle solubility test Mixtureof Hb S in a reducing solution Gives a turbid appearance (Precipitation of Hb S) Normal Hb gives a clear solution 17
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- 19. ■ Hb electrophoresis •To confirm the diagnosis. • There is, no Hb A 80–95% Hb SS 2–20% Hb F 19
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- 21. Results of laboratoryexamination 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/mm3 4 -6 million/mm3 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/mm3 150000- 400000/mm3 Bone marrow exanination Increased red cells 40-70% 8-30% 21
- 22. Tests todetect sickle cell genes before birth Diagnosed in an unborn baby Sampling amniotic fluid Look for the sickle cell gene 22
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- 25. Chest x-ray Acute chestsyndrome 25
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- 28. REFFERENCES • Kumar &Clark’s clinical medicine, 7th eddition • Ganong’s physiology, 23rd 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
- 29. ACKNOWLEDGEMENT we wish tothank our dear sir Dr.Mahinda Kommalage for all the advices and his valuable time in completing this presentation. 29
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