The relationship between iron overload and clinical characteristics in a Spanish cohort of 100 C282Y homozygous hemochromatosis patients

Ann Hematol. 2007 Nov;86(11):831-5. doi: 10.1007/s00277-007-0336-0. Epub 2007 Jul 17.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Aged
  • Child
  • Cohort Studies
  • Diabetes Complications
  • Erectile Dysfunction / complications
  • Female
  • Hemochromatosis / complications
  • Hemochromatosis / genetics*
  • Hemochromatosis / physiopathology*
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics*
  • Homozygote
  • Humans
  • Iron / metabolism
  • Iron Overload / complications*
  • Iron Overload / therapy
  • Liver Cirrhosis, Alcoholic / complications*
  • Liver Cirrhosis, Alcoholic / metabolism*
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Polymorphism, Single Nucleotide / genetics
  • Sex Factors
  • Spain

Substances

  • HFE protein, human
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • Iron