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Prevalence of hereditary hemochromatosis among healthy workers. Diagnostic value of transferrin saturation assay



Prevalence of hereditary hemochromatosis among healthy workers. Diagnostic value of transferrin saturation assay



Anales de Medicina Interna 17(12): 628-631



Hereditary hemochromatosis is the most common inherited disorder in white population (2-8 cases per 1000 habitants). Hemochromatosis is characterized by increased intestinal absorption of iron leading to its deposition into multiple organs. An early diagnosis and proper management with frequent phlebotomies are known to improve life expectancy and quality of life. Diagnosis is suggested by an elevated Transferrin saturation (TS) (more than 60%). Prospective study of the level of TS among 1131 healthy workers, who came to the Security and Hygiene Official Centre for their annual revision had been undertaken. Twenty-wo workers had high TS; in 10 of them the increase of TS was confirmed on repeated determinations. Liver biopsy was performed in six (and refused by the other four), eventually a diagnosis of hemochromatosis was confirmed in three (in-group prevalence of 2.6 per 1000 people). In our experience, TS is the most appropriate initial screening test for detecting hereditary hemochromatosis in a normal population.

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Accession: 047062230

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PMID: 11213576


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