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Case of a Child with Chronic Ill Health, Pallor and Protuberant Abdomen

Case Scenario:

A child with chronic ill health, pallor and protuberant abdomen


A 3 years old girl was brought to a referral hospital from a remote area. The parents told that child had chronic ill health with frequent attacks of diarrhea and fever since the age of 6 months. The parents were first cousins and girl was their first child. There was history of similar complaints in one of the child’s relative.


Clinical examination of the patient revealed frontal bossing, prominent maxillae and depressed bridge of nose, widely spaced teeth, pallor , mild jaundice and protuberant abdomen. The liver was palpable 8 cm and spleen 5 cm. There was flow murmur on the auscultation of heart. Examination of respiratory system and central nervous system was unremarkable.


Ultrasound abdomen showed marked hepatosplenomegaly. Her blood profile showed Hemoglobin = 5.6 g/dL WBC = 37 X 109/L  Platelets = 365 X 109/ L

Examination of the peripheral film showed leucoerythroblastic blood picture. LFTs revealed mild indirect hyperbilirubinemia. The pathologist advised further tests on parents and child to reach at a diagnosis …


The patient received red cell transfusion for her symptoms. The parents were told that their child would require life long blood transfusion with measures to control accumulated iron in the body. The mother was advised to report back within 10-12 weeks of next pregnancy for prenatal diagnosis of the disorder …


  1. What could cause these signs and symptoms?
  2. Explain above signs and symptoms and differential diagnosis in this case.
  3. How would you proceed with diagnosis of this case?
  4. How abnormal biochemical findings can be explained in this case?
  5. What is the pathogenesis of this disease?
  6. How would you manage this case and what are the complications of its treatment?

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