title: 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).
abstract: 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 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<0.001). Mortality among siblings, children and parents in the HEFAS population was similar to that in the relatives of matched control.
  
  
  CONCLUSIONS
  In this study we show that, morbidity among first-degree family members of C282Y-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 increase morbidity figures to increase prevalenc of the C282Y mutated HFE-gene and elevated serum iron indices.
authors: Department of Clinical Chemistry, Radboud University Nijmegen Medical Centre, the Netherlands.
authors: E M G
authors: EM
authors: Jacobs
authors: J C M
authors: JC
authors: Hendriks
authors: J J M
authors: JJ
authors: Marx
authors: C Th B M
authors: CT
authors: van Deursen
authors: H G
authors: HG
authors: Kreeftenberg
authors: R A
authors: RA
authors: de Vries
authors: A F H
authors: AF
authors: Stalenhoef
authors: A L M
authors: AL
authors: Verbeek
authors: D W
authors: DW
authors: Swinkels
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D005260:Female; D006432:Hemochromatosis / Q000453:epidemiology / Q000235:genetics* / Q000401:mortality; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009426:Netherlands / Q000453:epidemiology; D015995:Prevalence; D012307:Risk Factors; D011795:Surveys and Questionnaires
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins