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Medicina & Laboratorio

2023, Number 3

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Medicina & Laboratorio 2023; 27 (3)

Hemochromatosis: clinical and diagnostic update

Arias-Agudelo LM, Mesa-Arango JA, Franco-Alzate C, Santiago-Pacheco V

Language: Spanish
References: 54
Page: 229-244
PDF size: 712.81 Kb.


ABSTRACT

Hemochromatosis is a disorder in which progressive iron overload may lead to systemic complications with potential morbidity and mortality. It is a clinicopathologic entity that involves multiple genes and common pathophysiology, and has a variable clinical and phenotypic expression that depends on several individual and environmental factors. To make the diagnosis and perform a proper follow-up, clinical, biochemical, and molecular elements must be considered. This review aims to present the general characteristics of hemochromatosis, its molecular and pathophysiologic mechanisms, and their significance in the diagnosis of this disorder. In addition, a new classification and a proposed diagnostic algorithm by an expert working group are described, as well as management and follow-up options for patients with hemochromatosis.


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