1.A seven-year-old boy presented to the hospital with breathlessness and severe pallor. On examination he had stunted growth, frontal bossing, mild icterus and moderate splenomegaly. History of repeated blood transfusions was present. Investigations revealed Hb- 3gm%, TLC – 5600/cu.mm, platelets –
- a) 0 lakhs/cu.mm. Peripheral smear showed microcytic hypochromic blood picture with marked anisopoikilocytosis, many target cells and reticulocyte count of 5%.
- b) What is the likely diagnosis and why
- c) What is the pathogenesis of this condition
- d) What are the laboratory investigations needed in such a case to diagnose the disease and the expected results
- e) How do you classify this disease based on its clinicohematological profile