Healthcare professionals Primary care Diagnosis & care Diagnosis & care This guide contains everything a GP needs to know about the diagnosis & care of people with genetic haemochromatosis This guide contains everything a GP needs to know about genetic haemochromatosis, including prevelence, genetics, early, classic and late symptoms, primary care testing and primary care pathway. It also covers treatment and ongoing management. Download GP Guide This guide is fully endorsed by our clinical advisory panel. Booklet Summary 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. Prevalence Prevalence of the condition varies regionally : Scotland : 1 in 113 people directly affected Northern Ireland : 1 in 113 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.