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

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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.

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References

  1. Adams PC, Deugnier Y, Moirand R, Brissot P (1997) The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic haemochromatosis. Hepatology 25:162–166

    Article  PubMed  CAS  Google Scholar 

  2. Adams PC, Reboussin DM, Barton JC et al (2005) Haemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med 352:1769–1778

    Article  PubMed  CAS  Google Scholar 

  3. Altes A, Ruiz A, Barceló MJ et al (2004) Prevalence of C282Y, H63D and S65C mutations of HFE gene in 1146 newborns from a region of Northern Spain. Genet Test 8:407–410

    Article  PubMed  CAS  Google Scholar 

  4. Barry M, Sherlock SA (1971) Measurements of liver-iron concentration in needle-biopsy specimens. Lancet 1:100–103

    Article  PubMed  CAS  Google Scholar 

  5. Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T (2002) Penetrance of 845→A (C282Y) HFE hereditary haemochromatosis mutations in USA. Lancet 359:211–218

    Article  PubMed  Google Scholar 

  6. Beutler E (2006) Haemochromatosis: genetics and pathophysiology. Annu Rev Med 57:331–347

    Article  PubMed  CAS  Google Scholar 

  7. Brissot P, Bourel M, Herry D et al (1981) Assessment of liver iron content in 271 patients: a reevaluation of direct and indirect methods. Gastroenterology 80:557–565

    PubMed  CAS  Google Scholar 

  8. Harrison SA (2006) Liver Disease in patients with diabetes mellitus. J Clin Gastroenterol 40:68–76

    Article  PubMed  Google Scholar 

  9. Holstein A, Hinze S, Thieben E (2002) Clinical implications of hepatogenous diabetes in liver cirrosis. J Gastroenterol Hepatol 17:677–684

    Article  PubMed  Google Scholar 

  10. Niederau C, Berger M, Stremmel W et al (1984) Hyperinsulinaemia in non-cirrhotic haemochromatosis: impaired hepatic insulin degradation? Diabetología 26:441–444

    PubMed  CAS  Google Scholar 

  11. Olsen NS, Nuetzel JA (1950) Resistance to small doses of insulin in various clinical conditions. J Clin Invest 29:862–866

    PubMed  CAS  Google Scholar 

  12. Parke AL, Parke DV (1994) Hepatic disease, the gastrointestinal tract, and rheumatic disease. Curr Opin Rheumatol 6:85–94

    Article  PubMed  CAS  Google Scholar 

  13. Pietrangelo A (2004) Hereditary haemochromatosis—a new look at an old disease. N Engl J Med 350:2383–2397

    Article  PubMed  CAS  Google Scholar 

  14. Strohmeyer G, Niederau C (2000) Diabetes mellitus and haemochromatosis. In: Barton JC, Edwards JC (eds) Haemochromatosis. Cambridge University Press, Cambridge, pp 268–277

    Google Scholar 

Download references

Acknowledgements

This work was partially supported by grants from Fondo de Investigaciones Sanitarias (PI-04/1120) and Agencia d’Avaluació de Tecnología i Recerca Mèdica (005/29/2004). This work complies with the current law of Spain inclusive of ethics approval.

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Correspondence to Albert Altes.

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Altes, A., Ruiz, A., Martinez, C. et al. The relationship between iron overload and clinical characteristics in a Spanish cohort of 100 C282Y homozygous hemochromatosis patients. Ann Hematol 86, 831–835 (2007). https://doi.org/10.1007/s00277-007-0336-0

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  • DOI: https://doi.org/10.1007/s00277-007-0336-0

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