Developed in collaboration with CASA Medical.
Haemochromatosis is a hereditary disorder caused by mutations in genes related to iron regulation, most commonly C282Y mutations in the HFE gene. It leads to increased absorption of iron from the intestine that can cause iron overload and organ damage. Some gene mutations are more likely than others to cause iron overload, not all persons with (even higher risk) gene mutations develop iron overload, and other conditions, such as liver disease, alcohol excess, and a first degree relative with a history of iron overload can increase the risk.
Most people with haemochromatosis have no symptoms until they experience iron overload. It can take decades for iron overload to cause organ damage, and this progression can be delayed in women who are menstruating. If untreated, iron overload typically first leads to liver damage and then various other organs.
There is currently no recommendation for screening for cases of haemochromatosis, and most cases are found through family tracing or abnormal iron studies. Gene testing is the mainstay of diagnostic testing when suspected. Ferritin is monitored to ensure no further iron overload occurs.
The mainstay of management is venesection. Iron chelation therapy is very occasionally used if venesection cannot be tolerated.
When the condition is treated to the recommended treatment range (ferritin >50 and <100 µg/L) the prognosis is excellent. Damage due to iron overload can be more challenging to manage – hopefully with good case recognition this becomes rarer.
Report to ME or CAA for any of the following:
Cease flying or controller operations and report to ME or CAA if:
Cease flying or controller operations:
For more information, see Medical Manual: Haemochromatosis.
