Question of the Day

Case Study: 60 year old male with recent onset of diabetes mellitus. A liver biopsy is performed which shows cirrhosis and a very dramatic increase in iron staining. A liver mass is also biopsied which shows hepatocellular CA. Given the most likely underlying diagnosis, which of the following statements is true?
The disease frequency in individuals of Northern European descent is 1 in 2000 (0.05%) with an allele frequency of approximately 1%.
A single mutation (cystein 282 – tyrosine) in the HFE gene accounts for approximately 10-20% of cases.
This disease has a female predominance (5:1).
This disease is associated with an approximately 200x increase in the risk of developing hepatocellular carcinoma.

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