Symptoms (Often Develop Gradually)
- Fatigue — often the earliest and most common symptom
- Joint pain, especially the hands
- Bronze/grey skin discolouration
- Erectile dysfunction, reduced libido
- Symptoms of diabetes (pancreatic iron deposition)
- Symptoms of liver disease (advanced cases) — often called 'bronze diabetes' historically
Diagnostic Tests
| Test | Finding |
|---|---|
| Transferrin saturation | Elevated (>45%) — often the first abnormal test |
| Ferritin | Elevated — reflects iron stores, but also rises with inflammation so needs correlation |
| HFE genetic test | Confirms C282Y or H63D mutations — most people with 2 copies of C282Y develop the condition |
| Liver biopsy or MRI (Ferriscan) | Assesses liver iron content and damage in confirmed cases |
Treatment — Venesection
The mainstay treatment is regular venesection (removing blood, like donating blood) — this removes iron-rich red blood cells, forcing the body to use its iron stores to make new ones. Initially weekly or fortnightly until ferritin normalises, then maintenance sessions every few months for life.Early Treatment Prevents All ComplicationsIf diagnosed and treated before organ damage occurs (liver cirrhosis, diabetes, heart failure), people with haemochromatosis have a completely normal life expectancy — this makes family screening of relatives important once one person is diagnosed.
Should my relatives be tested if I have haemochromatosis?
Yes — since it's genetic, first-degree relatives (siblings, children, parents) should be offered testing (genetic test and/or ferritin/transferrin saturation), as early detection prevents complications.
Can I still donate blood if I have haemochromatosis?
In many countries, people with haemochromatosis can donate blood as part of their treatment (therapeutic venesection), which also helps the blood supply — check with your local blood service for specific eligibility.
Does having the HFE gene mutation mean I'll definitely develop haemochromatosis?
No — having two copies of C282Y increases risk significantly, but not everyone with this genotype develops clinically significant iron overload; regular monitoring of iron levels helps determine who needs treatment.
Medical Disclaimer: This page is for general education only and does not replace professional medical advice. Always consult a qualified healthcare provider.