Early detection of type 1 haemochromatosis: a case of normal ferritin levels with elevated transferrin saturation

Haemochromatosis is marked by excessive iron accumulation leading to damage to various organs. Although haemochromatosis dates to 1865, diagnosing the condition remains challenging due to its non-specific symptoms and due to its quiescent course, it often leads to significant delay in recognition. A woman in her 50s who presented with arthralgia was found to have raised transferrin saturation with normal ferritin. She underwent human homeostatic iron regulator protein (HFE) genetic screening test which showed H63D type 1 haemochromatosis. This report aims to draw attention to the pitfalls in diagnosing haemochromatosis as normal ferritin does not exclude hereditary haemochromatosis.