Genetic haemochromatosis is the UK’s most common genetic condition, directly affecting over 380,000^[1] people. Although it is commonplace, the condition is significantly under-diagnosed in the UK.

GP's Quick Guide to Genetic Haemochromatosis

This guide contains everything a GP needs to know about genetic haemochromatosis, including prevalence, genetics, early, classic and late symptoms, primary care testing and primary care pathway. It also covers treatment and ongoing management. 

This guide is fully endorsed by our clinical advisory panel.

Clinician's Guide to Genetic Haemochromatosis and Mental Health

This guide explains the impact genetic haemochromatosis can have on mental health. 

It includes details of the common symptoms, hormonal imbalances, vitamin deficiencies and clinical considerations. It also includes case studies and results from surveys of those with GH.

This guide is fully endorsed by our clinical advisory panel.

Prevalence

Prevalence of the condition varies regionally :

• Scotland : 1 in 113 people directly affected
• Northern Ireland : 1 in 10 people directly affected
• England : 1 in 150 people directly affected
• Wales : 1 in 150 people directly affected

Clinical causes

GH is caused by the inheritance of two mutated copies of the HFE gene. 

• C282Y/C282Y homozygous (95%) gives the highest risk of iron overload.
• C282Y/H63D compound heterozygotes (4%)
• H63D/H63D homozygous least likely to overload iron.

Typical symptoms

The three most common early symptom are:

1. Joint pains - stiffness and swelling particularly hands and fingers.
2. Fatigue
3. Cognitive/psychological issues.

Other symptoms to consider are, IBS, pancreatitis, fatty liver with no alcohol abuse history, hypothyroidism, hypopituitarism, cardiomyopathy or heart failure and diabetes.

Treatment

The primary form of treatment is venesection, although some patients with poor physiology or tolerance for needles may benefit from chelation therapy.