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Population-based study of cystic fibrosis disease severity and haemochromatosis gene mutations

journal contribution
posted on 2023-05-17, 04:21 authored by Pratap, U, Quinn, S, Christopher BlizzardChristopher Blizzard, Reid, DW
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 entireCF population); 19 (23.2%)wereH63D 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.

History

Publication title

Respirology

Volume

15

Pagination

141-149

ISSN

1323-7799

Department/School

Menzies Institute for Medical Research

Publisher

Blackwell Publishing Asia

Place of publication

54 University St, P O Box 378, Carlton, Australia, Victoria, 3053

Rights statement

The definitive published version is available online at: http://onlinelibrary.wiley.com/

Repository Status

  • Restricted

Socio-economic Objectives

Clinical health not elsewhere classified

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