Comparing the types of haemochromatosis- from genetics to clinics.
Level 5 - mechanism / opinion, no new human data
Narrative review synthesizing genetic mechanisms and clinical features without systematic search or meta-analysis.
PubMed 41882292 · doi:10.1038/s41431-026-02084-z
What was done
This is a narrative review synthesizing the genetic basis, pathophysiology, iron-related biochemical parameters, and clinical manifestations across different genetic subtypes of haemochromatosis (mutations in HFE, HJV, TFR2, HAMP, and FPN1/SLC40A1).
What was found
The abstract reports no numerical data or quantitative risk estimates. Qualitatively, it highlights that HFE- and TFR2-related haemochromatosis present with late-onset, gradual iron loading, predominantly causing liver and joint damage. In contrast, HJV- and HAMP-related juvenile forms cause rapid, severe iron loading within the first three decades of life with cardiac and endocrine complications due to markedly decreased or absent hepcidin. Additionally, gain-of-function ferroportin mutations cause iron accumulation with high transferrin saturation, whereas loss-of-function ferroportin disease presents with a tendency toward anaemia.
Why it matters
It provides a consolidated comparative overview contrasting the pathophysiological mechanisms, age of onset, and organ complications among common and rare forms of genetic iron overload.
Limits
As a narrative review, it does not provide systematic search methods, pooled quantitative data, penetrance estimates, or original empirical data.
Cited by
- supports Hemochromatosis is a genetic condition characterized by excessive iron accumulation in the body.