Title
Hereditary hemachromatosis: clinical case report and literature review
Other title
[Hemocromatosis hereditaria: reporte de caso clínico y revisión de la literatura.]
Date Issued
01 January 2006
Access level
metadata only access
Resource Type
journal article
Abstract
Hemachromatosis is a hereditary condition, producing progressive iron overload as a result of the mutation in proteins that regulate intestinal iron absorption. It is a systemic disease with several manifestations including cirrhosis, diabetes mellitus, cardiomyopathy, joint disease and a proportion of asymptomatic patients. When it is diagnosed and treatment with phlebotomies is initiated before any organ damage is developed, the prognosis is very good, with normal survival free of manifestations. This condition is common in European populations. We report the case of a Peruvian patient of European ancestry who is asymptomatic, but has high levels of aminotransferases and elevated iron markers. Genetic testing confirmed the patient's diagnosis of hereditary hemachromatosis.
Start page
312
End page
317
Volume
26
Issue
3
Language
Spanish
OCDE Knowledge area
Gastroenterología, Hepatología Gastroenterología, Hepatología
Scopus EID
2-s2.0-33750949801
PubMed ID
Source
Revista de gastroenterología del Perú : órgano oficial de la Sociedad de Gastroenterología del Perú
ISSN of the container
10225129
Sources of information: Directorio de Producción Científica Scopus