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Medicina & Laboratorio

2023, Number 4

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Medicina & Laboratorio 2023; 27 (4)

Hereditary hemochromatosis and the importance of mutations in the HFE gene

Obelleiro-Campos AX, Ribera-Pérez M, Malagón-Corominas C, Aharchi-Amghar J, Claver-Belver N

Language: Spanish
References: 57
Page: 383-394
PDF size: 117.34 Kb.


ABSTRACT

Hereditary hemochromatosis (HH) is a recessive genetic disorder of iron metabolism, which causes iron accumulation in organs and tissues. HH is related to mutations in the HFE gene, the most frequent is C282Y, secondarily H63D and S65C mutations. These mutations prevent the correct location of the HFE protein in the cell membrane resulting in increased intestinal absorption and intracellular iron accumulation. Although HH is a common genetic disorder in Caucasians, the penetrance of the disease is relatively low, resulting in great variability in clinical and biochemical phenotypes. Biochemical tests are the first tool to approach the diagnosis of these patients, mainly transferrin saturation and serum ferritin, and their genetic diagnosis is performed by identifying mutations in the HFE and non- HFE genes. Likewise, it is crucial to periodically evaluate iron metabolism in individuals with a family history of the disease or in patients with unexplained increases in ferritin or serum iron, since early identification considerably improves the prognosis of HH, allowing therapeutic management according to the HFE and non-HFE genotype, and degree of disease expression.


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