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


Pratap, U and Quinn, S and Blizzard, LB and Reid, DW, Population-based study of cystic fibrosis disease severity and haemochromatosis gene mutations, Respirology, 15, (1) pp. 141-149. ISSN 1323-7799 (2010) [Refereed Article]

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DOI: doi:10.1111/j.1440-1843.2009.01649.x


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.

Item Details

Item Type:Refereed Article
Keywords:cystic fibrosis, haemochromatosis, iron, Pseudomonas aeruginosa
Research Division:Biomedical and Clinical Sciences
Research Group:Cardiovascular medicine and haematology
Research Field:Respiratory diseases
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Pratap, U (Miss Upasna Pratap)
UTAS Author:Quinn, S (Dr Stephen Quinn)
UTAS Author:Blizzard, LB (Professor Leigh Blizzard)
UTAS Author:Reid, DW (Dr David Reid)
ID Code:66586
Year Published:2010
Web of Science® Times Cited:5
Deposited By:Menzies Institute for Medical Research
Deposited On:2011-02-02
Last Modified:2011-05-03

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