haemochromatosis features

Question 1

what is haemochromatosis?

Answer 1

autosomal recessive disorder of iron absorption and metabolism resulting in iron accumulation.

Question 2

what is haemochromatosis causes by?

Answer 2

inheritance of mutations in the HFE gene on both copies of chromosome 6.

Question 3

presenting features

Answer 3

fatigue, erectile dysfunction, stiffness of joints on the hands.
diabetes mellitus
cardiac failure
arthititis

Question 4

reversible complications

Answer 4

cardiomyopathy

skin pigementation

Question 5

irreversible complications

Answer 5

liver cirrhosis
diabetes mellitus
hypogonadotrophic hypogonadism
arthropathy