title: The relationship between iron overload and clinical characteristics in a Spanish cohort of 100 C282Y homozygous hemochromatosis patients.
abstract: We studied the relationship between iron removed by venesection, sex, age, and clinical characteristics in a group of 100 Spanish probands with hereditary hemochromatosis (HH), all C282Y homozygous in the HFE gene. Iron overload was higher in men than in women (P < 0.0001) and increased with age (P = 0.02). Forty-four patients presented with liver disease (28 had fibrosis-cirrhosis of the liver), 24 with diabetes, 18 with arthropathy, and 13/73 men with impotence. No clinical consequences of hemochromatosis were observed in 43 patients. The number of clinical complications was higher in men (P = 0.01) and increased with age (P = 0.006) and with the amount of iron removed (P < 0.0001). The amount of iron removed was significantly higher by univariate analysis in patients with liver disease (P < 0.0001), diabetes (P = 0.007), arthropathy (P = 0.006), and impotence (P = 0.003) than in patients without these complications. In the multivariant analysis, only liver disease maintained a significant relationship with the amount of iron removed (P < 0.0001). Diabetes and arthropathy were closely related with previous liver disease, and impotence appeared mainly in hemochromatosic men with diabetes and alcoholism.
authors.affiliation: Hematology Department, Hospital de l'Esperit Sant de Santa Coloma de Gramenet, Barcelona, Spain. aaltes@hes.scs.es
authors.forename: Albert
authors.initials: A
authors.lastname: Altes
authors.forename: Angels
authors.initials: A
authors.lastname: Ruiz
authors.forename: Clara
authors.initials: C
authors.lastname: Martinez
authors.forename: Anna
authors.initials: A
authors.lastname: Esteve
authors.forename: Maria Dolores
authors.initials: MD
authors.lastname: Vela
authors.forename: Angel Francisco
authors.initials: AF
authors.lastname: Remacha
authors.forename: Pilar
authors.initials: P
authors.lastname: Sarda
authors.forename: Vanessa
authors.initials: V
authors.lastname: Bach
authors.forename: Montserrat
authors.initials: M
authors.lastname: Baiget
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D002648:Child; D015331:Cohort Studies; D048909:Diabetes Complications; D007172:Erectile Dysfunction / Q000150:complications; D005260:Female; D006432:Hemochromatosis / Q000150:complications / Q000235:genetics* / Q000503:physiopathology*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007501:Iron / Q000378:metabolism; D019190:Iron Overload / Q000150:complications* / Q000628:therapy; D008104:Liver Cirrhosis, Alcoholic / Q000150:complications* / Q000378:metabolism*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012737:Sex Factors; D013030:Spain
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron