Question: An 8 months old girl with A Greek-Cypriot parents is brought to
her GP as her parents were worrie…


An 8 months old girl with A Greek-Cypriot parents is brought to
her GP as her parents were worried she is not growing well and she
is very pale. On examination, there is pallor and mildly icteric
sclera. She has distended abdomen with hepatosplenomegaly and there
is mild frontal bossing. She was born on 25th centile and her
height has fallen to 2nd centile. Blood tests show a microcytic
hypochromic anemia. Q. What is the initial impression of the case?
Q. What is the genetic defect of her blood? Q. Why is her sclera
yellow? Q. Why she developed hepatosplenomegaly Q. What other tests
would you like to do to confirm your initial diagnosis and
management of the case? Q. Define the following terms Microcytic
and hypochromic (include numeric values) Anemia (include numeric
values) Icteric Hepatosplenomegaly

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