Haemachromatosis

Question 1

Haemochromatosis definition

Answer 1

autosomal recessive disorder with dysregulation of dietary iron absorption and increased iron release from macrophages

Question 2

Haemochromatosis risk factors

Answer 2

• middle age
• more common in males
• Caucasian ethnicity
• family history

Question 3

Haemochromatosis pathophysiology

Answer 3

• HFE gene mutation on chromosome 6
• leads to increased iron absorption

Question 4

Haemochromatosis signs and symptoms

Answer 4

• fatigue, erectile dysfunction, arthralgia
• bronze skin pigmentation
• diabetes mellitus
• liver - hepatomegaly, cirrhosis etc
• dilated cardiomyopathy leads to heart failure
• cirrhosis and pituitary dysfunction lead to hypogonadism

Question 5

Haemochromatosis investigations

Answer 5

• raised transferrin saturation > 50-55%
• raised ferritin (normal in early disease)
• low total iron binding capacity
• genetic testing for HFE mutation

Question 6

Haemochromatosis management

Answer 6

• venesection to reduce transferrin
• desferrioxamine