Iron is a
trace element that is important for many vital processes, including
oxygen transport, oxidative metabolism, cellular proliferation, and catalytic reactions.
Iron supports these functions mainly as part of the
heme molecule.
Heme synthesis is an eight-step process which, when defective at the level of one of the eight
enzymes involved, can cause the development of a group of diseases, either inherited or acquired, called
porphyrias. Despite the strict link between
iron and
heme, the role of
iron in the different types of
porphyrias, particularly as a risk factor for disease development/progression or as a potential therapeutic target or molecule, is still being debated, since contrasting results have emerged from clinical observations, in vitro studies and animal models. In this review we aim to deepen such aspects by drawing attention to the current evidence on the role of
iron in
porphyrias and its potential implication. Testing for
iron status and its metabolic pathways through blood tests, imaging techniques or genetic studies on patients affected by
porphyrias can provide additional diagnostic and prognostic value to the clinical care, leading to a more tailored and effective management.