Baseline indices of iron load predict severity of arthropathy in C282Y homozygous HFE haemochromatosis

Document Type

Journal Article

Publication Title

Tasman Medical Journal


Tasman Journals


School of Medical and Health Sciences




Chen, J. J., Carroll, G. J., Breidahl, W., & Olynky, J. K. (2022). Baseline indices of iron load predict severity of arthropathy in C282Y homozygous HFE haemochromatosis. Tasman Medical Journal, 4(1), 1-5.


Objective: To determine the relationship between baseline indices of iron load and severity of arthropathy in C282Y homozygous HFE haemochromatosis (HH). Method: Genetically proven HH participants from a previous community-based study who had clinical and radiologically confirmed arthropathy compatible with HH were included. The most recent joint imaging and blood tests available up to November 2021 were used to assess the summative joint damage score (SJDS), which comprises the sum of radiological grades in all clinically affected joints and all joints in the hands. Relevant x-rays were examined by both a rheumatologist and musculoskeletal radiologist. Joint scores were assigned in keeping with published systems of classification. Discrepancies were resolved by consensus. Results: Nineteen participants with HH and arthropathy (median age 55 years) were analysed. Statistically significant correlations were observed between SJDS and serum ferritin at diagnosis of HH and between SJDS and the red cell mean corpuscular volume (MCV) at diagnosis of HH, [r = 0.58, p = 0.01 and r = 0.474, p = 0.04, respectively]. There was no statistically significant correlation between transferrin saturation at diagnosis and SJDS. Neither current ferritin nor current transferrin saturation were found to correlate with SJDS. Conclusion: Indices of iron metabolism at the time of HH diagnosis and, in particular, serum ferritin concentrations and elevation of the MCV were found to be associated with the radiological severity of HH arthropathy. This finding suggests that baseline iron load is a prognostic marker for joint disease severity and that ferritin concentration at diagnosis is likely to be mechanistically important in the development of chondral damage.

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