Specialist assessment for iron overload
Hereditary haemochromatosis is a genetic condition of iron metabolism. In some people, the intestine absorbs too much iron and, over years, iron can accumulate particularly in the liver as well as in joints, the pancreas, heart, skin, and endocrine organs. Detecting and treating clinically relevant overload before organ damage occurs can substantially improve the outlook.
A positive genetic result or an isolated raised ferritin value is not enough to decide on treatment. Assessment brings together symptoms, family history, transferrin saturation, ferritin, full blood count, liver values, inflammation and—where appropriate—HFE genetics and liver imaging. The aim is to distinguish iron overload from other reasons for hyperferritinaemia.
What is hereditary haemochromatosis?
In people of European ancestry, the most common form is associated with variants in the HFE gene, particularly C282Y. Penetrance varies: not everyone with a genetic predisposition develops clinically relevant iron overload. Diagnosis therefore does not rest on genotype alone, but also on the amount and trajectory of stored iron and any evidence of organ involvement.
Without treatment, substantial overload can contribute to liver fibrosis or cirrhosis, diabetes, arthropathy, hormonal disorders and, less commonly, heart disease. Advanced liver fibrosis or cirrhosis requires ongoing specialist follow-up even after iron has been reduced.
Symptoms and blood tests
Early haemochromatosis can cause no symptoms. Tiredness, joint pain, reduced libido, abdominal discomfort, or changes in skin colour are possible but non-specific. Blood tests and their clinical context are therefore more informative than symptoms alone.
Transferrin saturation shows how much iron-binding capacity is occupied. Persistently increased values, especially together with raised ferritin, can suggest iron overload. Ferritin is also an acute-phase protein and can rise with inflammation, liver disease, alcohol use, metabolic syndrome, or malignancy. A raised ferritin value does not automatically mean that excess iron is stored in tissues.
When is HFE testing useful?
HFE testing is usually considered when transferrin saturation is persistently raised or there is a relevant family history. Genetic counselling may be helpful before testing. Adult first-degree relatives of a person with confirmed hereditary haemochromatosis can discuss an individual testing plan with their doctor.
First-line treatment: therapeutic phlebotomy
If iron overload is confirmed and treatment is indicated, regular therapeutic phlebotomy (venesection) is the standard first-line option. A defined amount of blood is removed at intervals, prompting the body to use stored iron to make new red blood cells. The schedule is adapted to ferritin, haemoglobin, age, comorbidities, tolerance, and the treatment phase.
Treatment has an induction phase to reduce excess iron and a maintenance phase to prevent re-accumulation. Targets and frequency are decided with the treating clinician; overly intensive blood removal can cause anaemia or other problems.
Erythrocytapheresis in selected cases
Erythrocytapheresis selectively removes red blood cells while returning most plasma and other blood components. It can remove more iron per session than conventional phlebotomy and may be considered for selected people, for example when treatment visits need to be reduced or a specific clinical indication is present. It requires suitable vascular access, specialised equipment, and an individual risk-benefit assessment.
It is not automatically the right choice for everyone. The decision is based on medical findings, availability, tolerance, and treatment goals.
Consultation and lifestyle
Please bring previous laboratory results, imaging reports, family history, current medication, and information about past blood donations or phlebotomies. We review whether iron overload is present, which causes are plausible, whether organs may be affected, and which follow-up is appropriate. If necessary, we coordinate with hepatology, cardiology, endocrinology, genetics, or primary care.
Nutrition can support medical care but does not replace iron-reduction treatment when it is indicated. Iron supplements should not be taken without medical advice. Alcohol intake, liver health, metabolic risk factors, and raw seafood safety can be discussed individually. Highly restrictive diets are usually unnecessary unless another condition requires them.
Frequently asked questions
Does raised ferritin always mean haemochromatosis?
No. Ferritin can rise for many reasons, including inflammation, fatty liver, alcohol use, and metabolic disease. Transferrin saturation and the broader clinical context are essential.
Can hereditary haemochromatosis be cured?
The genetic predisposition remains, but iron overload can usually be managed with monitoring and iron-reduction treatment when indicated.
Is erythrocytapheresis better than phlebotomy?
Not in every case. It may be useful for selected people, but therapeutic phlebotomy remains the standard initial approach for most patients.
Should family members be tested?
Adult first-degree relatives should discuss individual testing with their doctor after a diagnosis in the family.