A 5-year-old male presented to Paediatric OPD with chief complaints of weakness, breathlessness and pain abdomen for one week. Lab investigations revealed Hb- 3.5gm/dl, TLC-4900/cmm, RBC count- 4.8 million/cmm, MCV – 58 fl & platelets count- 5 lakh/cmm. Patient has received multiple blood transfusions in the past. On examination, facial deformity and massive splenomegaly were found. X-ray skull revealed crew cut appearance. a. What is most likely diagnosis? b. Write its mode of inheritance and actionathogenesis. c. Write its laboratory diagnosis.

A 3 year old boy was brought by his parents with complains of extreme fatigue and irritability for past 6 months. On examination he had severe pallor and splenomegaly. His CBC showed decreased Hemoglobin and decreased Red Blood cell count along with decreased indices. Rest parameters of CBC were normal. His Peripheral blood smear showed following features. a. Enumerate at least 5 important smear findings. 2.5 M b. What is your provisional diagnoses? 1.0 M c. Classify the various types of the above mentioned entity. 2.5 M d.Mention and describe the important investigations to establish your diagnosis. 4.0 M