Haemochromatosis

Question 1

Definition

Answer 1

Autosomal recessive disorder of iron metabolism

Question 2

Aetiology/pathogenesis

Answer 2

1. Mutation on HFE gene on short arm of chromosome 6
2. 2 common mutations:
   - C282Y (higher chance) (homozygotes + compound heterozygotes)
   - H63D (mider) (compound heterozygotes)

Question 3

Penetrance

Answer 3

low - 2 mutstion and not affected can occur

Menstruation is protective

Question 4

Folow up

Answer 4

regular iron testing

venesection if necessary

Question 5

Complications

Answer 5

DM
Cirrhosis
Cardiomyopathy
Arthropathy

Question 6

Screening

Answer 6

offer to sibing and adult siblings with affected individual

USE ARMS- know where mutation is