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)

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 pConclusion: 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.