haemochromatosis

Question 1

This is a monogenic autosomal ____- disease of iron overload due to increase _____ iron absorption so get iron deposits around the body - including the liver. The feedback signal to stop the movement of iron __, doesnt work

Answer 1

This is a monogenic autosomal recessive disease of iron overload due to increase intestinal iron absorption so get iron deposits around the body - including the liver. The feedback signal to stop the movement of iron in, doesnt work

Question 2

characterised by C282Y or H63D, mutations in ___ gene.

Answer 2

HFE

Question 3

what are the early presentation signs? 2

Answer 3

tiredness and arthralgia

Question 4

what is the later clinical picture? 3

Answer 4

grey skin, signs of chronic liver disease and hepatomegaly

Question 5

patient can develop ___ , ____ and ___ failure

Answer 5

Patient gets cirrhosis, cardiomyopathy and pancreatic failure

Question 6

what is the treatment?

Answer 6

venesection- reduces the number of red blood cells or ferretin in the body