Haemochromatosis

Question 1

What is the daily iron requirement?

Answer 1

10-20 mg

Question 2

What is haemochromotosis?

What are the common causes?

Answer 2

Iron overload due to any cause

Most commonly it is hereditary but can be due to recurrent transfusions (i.e. those who are transfusion dependent)

Question 3

What is the gene associated with haemochromatosis?
What is the mode of inheritance?
What are the common mutations? Which is most important?
What is the penetrance in homozygotes?

Answer 3

HFE
Autosomal recessive (Ch 6)
C282Y - most important, H63D
C282Y homozygotes have 10-30% penetrance

Question 4

What are the manifestations of haemochromatosis?

Answer 4

liver fibrosis / cirrhosis
HCC
Cardiomyopathy
Abnormal LFTs
Arthropathy
Endocrinopathy (diabetes mellitus, hypopituitarism)

Question 5

What tests are used to screen and monitor haemochromatosis?

Answer 5

Ferritin and transferrin saturations

Question 6

What is the chance of cirrhosis with ferritin <1000mcg/L?

Answer 6

Almost nil

Question 7

What is the PPV for cirrhosis for those C282Y homozygotes that have:

• Ferritin >1000mcg/L
• elevated AST/ALT
• platelets <200

Answer 7

0.8

Question 8

How is iron overload treated?

What guides treatment?

Answer 8

Venesection (or iron chelators if there is anaemia too)

Aim for low-normal ferritin