medigraphic.com
Colegio de Medicina Interna de México.

2005, Number 2

<< Back Next >>

Med Int Mex 2005; 21 (2)

Hereditary hemochromatosis: a report of a case and brief review of bibliography

Ruiz DGJ, Fernández LD, Sergio Herrero HS, Mancillas AL, León RE, Zavala GC

Language: Spanish
References: 13
Page: 156-160
PDF size: 80.14 Kb.


ABSTRACT

Hereditary hemochromatosis is the most common genetic disorder, with prevalence of 1/200 and frequency of 1/8 in Caucasians. This disorder involves excessive iron absorption and storage in the organs with a subsequent organic failure that leads to high morbidity and mortality rates if it is untreated. Most of the cases remained undiagnosed until there is an irreversible damage. In this article we describe the case of a patient with hemochromatosis and his clinical findings.


REFERENCES

  1. Ruiz-Argüelles GJ, Garcés-Eisele J, Gelbart T, et al. Analysis of HFE-codon 63/282 (H63D/C282Y) gene variants in Mexican mestizos. Blood donors and patients with hereditary hemochromatosis. Arch Med Res 2000;31:422-4.

  2. Andrews NC. Disorders of iron metabolism. N Engl J Med 1999;341(26):1986-95.

  3. Ruiz-Argüelles GJ, Abreu-Díaz G, Ruiz-Delgado GJ. Hemocromatosis hereditaria. Una visión práctica. Medicina Univ 2002;4:12-14.

  4. Traducción por Ruiz Argüelles GJ. Hemocromatosis hereditaria (genética o idiopática). Rev Invest Clin (Mex) 1985;37:395-8.

  5. Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996;13:399-408.

  6. Simon M, Le Mignon L, Fauchet R, et al. A study of 609 haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association. Am J Hum Genet 1987;41:89-105.

  7. Ruiz-Argüelles GJ, Garcés-Eisele J, Reyes-Nuñez V, et al. Heterozygosity for the H63D mutation in the hereditary hemochromatosis (HFE) gene may lead into severe iron overload in b-thalassemia minor. Observations in thalassemic kindred. Rev Invest Clin 2001;53:117-20.

  8. Adams PC, Deugnier Y, Moirand R, et al. The relationship between iron overload, clinical symptoms and age in 410 patients with genetic hemochromatosis. Hepatology 1997;25:162-6.

  9. Adams PC. Hepatocellular carcinoma in hereditary hemochromatosis. Can J Gastroenterol 1993;7:37-41.

  10. Hramiak I, Finegood D, Adams PC. Factors affecting glucose tolerance in hereditary hemochromatosis. Clin Invest Med 1997;20:110-8.

  11. Stulberg DL. Common hyperpigmentation disorders in adults. Part I. Diagnostic approach café au lait macules, diffuse hyperpigmentation, sun exposure, and phototoxic reactions. Am Fam Physician 2003;68(10):1955-60.

  12. Adams PC. Hemochromatosis. Clin Liver Dis 2004;8:112-26.

  13. Nash S, Marconi S, Sikorska K, et al. Role of liver biopsy in the diagnosis of hepatic iron overload in the era of genetic testing. Am J Clin Pathol 2002;118(1):73-81.




2020     |     www.medigraphic.com