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Updated: Jun 15, 2026

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
Published on: August 29, 2025
Population-based study of cystic fibrosis disease severity and haemochromatosis gene mutations
Upasna Pratap1, Stephen Quinn, Leigh B Blizzard
1Respiratory Research Group, Menzies Research Institute, University of Tasmania, Hobart, Tasmania 7001, Australia.
Background And Objective:
Haemochromatosis (HFE) mutations increase the risk of bowel obstruction in cystic fibrosis (CF), but the impact on other disease manifestations is unknown.
Methods:
We determined the prevalence of HFE mutations (C282Y and H63D) in the Tasmanian CF population and assessed the relationship to systemic iron stores, Pseudomonas aeruginosa infection, lung disease severity and prevalence of diabetes.
Results:
DNA was obtained from 82 individuals (96% of the entire CF population); 19 (23.2%) were H63D heterozygotes, three (3.7%) were H63D homozygotes and two patients were compound C282Y/H63D (2.4%). Seven (8.5%) patients were heterozygous for the C282Y mutation. Overall, 31 (37.8%) patients carried a HFE mutation. CF patients possessing HFE mutations had significantly better iron stores than non-carriers (P < 0.05). The mean slopes of annual decline in FEV1 and FVC % predicted were significantly steeper in HFE carriers compared with non-carriers (P < 0.01). Patients with HFE mutations were more likely to have had childhood bowel obstruction (RR 2.44, 95% CI: 1.04-5.74, P < 0.05). Diabetes was more common in HFE carriers (RR 2.96, 95% CI: 0.99-8.8, P = 0.05), but this effect attenuated when corrected for age (RR 2.89, 95% CI: 0.91-9.21, P = 0.07).
Conclusions:
HFE gene mutations modify disease severity in CF, through probable effects on iron homeostasis.
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