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Q28 · PATH-028 PBQ 10 marks 10.11

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.

Batch: '20
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Mar 2022 2020 10M 2nd Prof "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."
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