Genetic haemochromatosis, a common disorder but are General Practitioners still unaware? A qualitative study

Genetic haemochromatosis (GH) is the most common
genetic disorder in Caucasians. This is confirmed by data from the UK Biobank study which revealed that approximately 380, 000 people in the UK have GH2. Despite its prevalence, Freedom of Information requests from UK hospital Trusts revealed that only 20, 698 are currently being treated in the UK3 and only 1:5000 people are diagnosed with it4, 5, despite research indicating that 1:113 people have GH in Northern Ireland and Scotland, and 1:150 people in England and Wales2
GH causes the body to absorb excess iron which can lead to
systematic iron overload within internal organs such as the liver, pancreas, heart, and joints; eventually causing inflammation and tissue damage. If left untreated it may lead to cirrhosis of the liver and a ten-fold risk of hepatocellular carcinoma in men. Early symptoms of GH are non-specific such as fatigue, abdominal and joint pain and
as such, may be considered inconsequential by General Practitioners (GP’s), resulting in a delay in diagnosis and treatment, which consists of lifelong therapeutic venesections. To date there has been little research examining patient’s thoughts and experiences of being diagnosed and treated for GH, a disorder which, if diagnosed late, can cause significant harm.