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Author Question: A 3-month-old infant is exhibiting pallor and fatigue. The pediatrician orders a CBC, which displays ... (Read 87 times)

Tirant22

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on: Jun 25, 2018
A 3-month-old infant is exhibiting pallor and fatigue. The pediatrician orders a CBC, which displays a low RBC count, H&H, and normal WBC and PLT counts. EPO levels are increased. BM aspirate shows prominent erythroid hypoplasia.
 
  Cytogenetic analysis reveals the presence of RPS19 mutation. Based on these findings, what is the patient most likely suffering from?
 
  a. CDA II
  b. Pure red cell aplasia
  c. Diamond-Blackfan anemia
  d. Fanconi's syndrome

Question 2

A 5-year-old boy with malformed thumbs and microcephaly has been suffering from prolonged bleeding episodes, extreme fatigue,and persistent repetitive infections. Cytogenetic analysis shows increased chromosome breakage with the addition of diepoxybutane.
 
  Based on these findings, what is the patient most likely suffering from?
 
  a. CDA II
  b. Pure red cell aplasia
  c. Diamond-Blackfan anemia
  d. Fanconi's syndrome


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kescobar@64

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Reply #1 on: Jun 25, 2018
Answer to Question 1

Correct Answer: C

Answer to Question 2

Correct Answer: D


Tirant22

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Reply 2 on: Jun 25, 2018
Wow, this really help

peter

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Reply 3 on: Yesterday
Great answer, keep it coming :)

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