Empeiria

Iron overload

Clinically: Hereditary haemochromatosis · also iron overload, too much iron, high iron, excess iron, HFE, raised ferritin

genetic ICD-10 E83.110 MONDO MONDO:0006507 unverified
This describes what this condition typically looks like. It is not a diagnosis and cannot tell you whether you have it -- patterns overlap, results vary between labs, and the same numbers mean different things in different people. Diagnosis usually rests on Ferritin, interpreted alongside symptoms and history rather than read off a report.

unverified These explanations are written to be easy to read and have not yet been checked against a source. The ranges and measurement notes on this page show theirs.

definition unverified

The opposite problem to low iron. The gut takes in more iron than the body needs. Your body has no way to get rid of the extra, so it builds up over years and settles in your organs.

An inherited iron-overload disorder in which mutations in iron-regulatory genes (HFE in type 1, the commonest form; HJV or HAMP in type 2; TFR2 in type 3; SLC40A1 in type 4) cause excessive intestinal iron absorption; because iron excretion cannot be increased, iron accumulates in the liver, heart, pancreas, joints and skin and damages them.

caveats unverified

Slow to develop and easy to miss, because the early signs are vague. Caught early it is very manageable. The usual treatment is simply removing blood at intervals, which is as effective as it is old-fashioned.

Slow to develop and easy to miss, because the early signs are vague. Caught early it is very manageable. The usual treatment is simply removing blood at intervals, which is as effective as it is old-fashioned.

No clinical version written yet.

How common it is

One of the more common inherited conditions in people of northern European descent. Many who carry the genetics never accumulate enough iron to cause harm.

The typical lab pattern

What the diagnosis rests on

The results a diagnosis is actually made on.

Ferritin high — The clinical diagnosis rests on showing raised iron stores with a high ferritin, together with the gene result. Ferritin is also followed during treatment.
Consistent with it

Fits the picture, but not enough on its own.

Iron saturation high — A raised transferrin saturation (over 45%), with a raised ferritin, is what prompts gene testing. The gene test, not the saturation, confirms the diagnosis.
Iron, serum high — Serum iron is usually high (about 150–280 µg/dL in people without symptoms, versus 60–80 in healthy people). It is used to work out the transferrin saturation.
Alanine aminotransferase high — Raised liver enzymes can be a clue that leads to testing, and raised ALT is one reason to assess the liver for damage.

How it usually feels

Frequencies say how often a symptom accompanies this condition — not the other way round. Most people with any of these symptoms do not have this.