Morbidity and mortality in first-degree relatives of C282Y homozygous probands with clinically detected haemochromatosis compared with the general population: the HEmochromatosis FAmily Study (HEFAS)
Jacobs, E.M.G.; Hendriks, J.C.M.; Marx, J.J.M.; van Deursen, C.Th.B.M.; Kreeftenberg, H.G.; de Vries, R.A.; Stalenhoef, A.F.H.; Verbeek, A.L.M.; Swinkels, D.W.
Netherlands Journal of Medicine 65(11): 425-433
2007
ISSN/ISBN: 0300-2977 PMID: 18079565 Document Number: 605444
Background: Family screening has been suggested as a sophisticated model for the early detection of HFE-related hereditary haemochromatosis (HH). However, until now, controlled studies on the morbidity and mortality in families with HH are lacking.Methods: Data on iron parameters, morbidity and mortality were collected from 224 Dutch C282Y-homozygous probands with clinically overt HH and 735 of their is higher than that in an age- and gender-matched normal population. Further studies are needed to definitely connect these increased morbidity figures to increased prevalence of the C282Y mutated HFE-gene and elevated serum iron indices. first-degree family members, all participating in the HEmochromatosis FAmily Study (HEFAS). These data were compared with results obtained from an age- and gender-matched normal population. HEFAS and controls filled in similar questionnaires on demographics, lifestyle factors, health, morbidity and mortality.Results: A significantly higher proportion of the HEFAS first-degree family members reported to be diagnosed with haemochromatosis-related diseases: 45.7 vs 19.4% of the matched normal population (McNemar p<0.00I). Mortality among siblings, children and parents in the HEFAS population was similar to that in the relatives of the matched controls.Conclusion: In this study we show that morbidity among first-degree family members of Cz82Y-homozygous probands previously diagnosed with clinically proven HH is higher than that in an age- and gender-matched normal population. Further studies are needed to definitely connect these increased morbidity figures to increased prevalence of the C282Y mutated HFE-gene and elevated serum iron indices.