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.
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:
Joint pains - stiffness and swelling particularly hands and fingers.
Fatigue
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.