Hemochromatosis - High Yield Topic Series

12 Questions | By Karthi_dr | Last updated: Mar 21, 2022 | Total Attempts: 754

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1.

What is the inheritance pattern of Hemochromatosis?
- A.
  
  AD
- B.
  
  AR
- C.
  
  X-linked
- D.
  
  None
2.

Two known gene mutations in Hemochromatosis are C282Y & H63D
- A.
  
  True
- B.
  
  False
3.

Which chromosome is involved ?
- A.
  
  6
- B.
  
  7
- C.
  
  8
- D.
  
  9
4.

Which is the most common cause of death in treated patients ?
- A.
  
  CHF
- B.
  
  Hepatoma
- C.
  
  Infection
- D.
  
  None
5.

Which is the most common cause of death in Untreated patients ?
- A.
  
  Hepatoma
- B.
  
  CHF
- C.
  
  Infection
- D.
  
  None
6.

Earliest phenotypic marker or earliest lab finding is
- A.
  
  ↑ plasma iron
- B.
  
  ↑Transferrin saturation >45%
- C.
  
  ↑serum ferritin
- D.
  
  ↑RDW
7.

Main treatment of choice is
- A.
  
  Phlebotomy
- B.
  
  Deferoxamine
- C.
  
  BAL
- D.
  
  Dialysis
8.

A patient with Hemochromatosis is also found to have Hypoalbuminemia. In this case what is the treatment of choice ?
- A.
  
  Phlebotomy
- B.
  
  Deferoxamine
- C.
  
  BAL
- D.
  
  Dialysis
9.

Loss of libido in Hemochromatosis is due to dysfunction of Hypothalamo pitiutary axis.
- A.
  
  True
- B.
  
  False
10.

Human body has no natural way to rid itself of the excess iron since iron metabolism is primarily controlled at the level of absorption.
- A.
  
  True
- B.
  
  False
11.

Select the FALSE statement
- A.
  
  Both men and women can inherit the gene defect
- B.
  
  Inheriting the defective gene from only one parent results in carrier state
- C.
  
  Most of the mutations are sporadic.
- D.
  
  Males are more likely to get the symptoms earlier than females.
12.

45-year-old man is diagnosed as a case of hereditary hemochromatosis. Neither of his parents carry gene mutation. The patient has one sister. What is the chance that his sister is affected?
- A.
  
  No chance
- B.
  
  10% chance
- C.
  
  25% chance
- D.
  
  50% chance

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