Hereditary hemochromatosis: An update vision of the laboratory diagnosis.

Autor: Molina CA; Department of Clinical Biochemistry, Hospital Universitario Miguel Servet, Zaragoza, Spain. Electronic address: cabadiamo@salud.aragon.es., Ros NG; Department of Clinical Biochemistry, Hospital Universitario Miguel Servet, Zaragoza, Spain., Tarancón RG; Genetic section, Department of Clinical Biochemistry, Hospital Universitario Miguel Servet, Zaragoza, Spain., Varas LR; Department of Clinical Biochemistry, Hospital Universitario Miguel Servet, Zaragoza, Spain., Flores VR; Department of Hematology and Hemotherapy, Hospital Universitario Miguel Servet, Zaragoza, Spain., Álvarez SI; Genetic section, Department of Clinical Biochemistry, Hospital Universitario Miguel Servet, Zaragoza, Spain.
Jazyk: angličtina
Zdroj: Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS) [J Trace Elem Med Biol] 2023 Jul; Vol. 78, pp. 127194. Date of Electronic Publication: 2023 May 06.
DOI: 10.1016/j.jtemb.2023.127194
Abstrakt: Haemochromatosis (HC) is an inherited disorder of iron metabolism. The 85-90% of Hereditary hemochromatosis cases are caused by mutations in HFE gene (HC type 1). The remaining 10-15% of HC cases are caused by mutations in other non-HFE genes (HJV, HAMP, TRF2, SLC40A1, BMP6). The study of patients for the diagnosis of HC has an important laboratory approached: analysis of biochemical parameters and genetic studies. To confirm a case, it is necessary to carry out a genetic study of the C282Y and H63D mutations. The presence of C282Y mutation in homozygosis is compatible with the diagnosis of HC type 1. Due to the incomplete penetrance of this mutation and the variable phenotypic expression, the severe forms of the disease are relatively rare. The study of variants in non-HFE genes allows more detailed study of both non-classic HC cases and those with more severe clinical expression. The genotype characterization of a patient not always justified the phenotype expression of the symptoms in this disease. All laboratory clinicians must consider recommendation provide by the experts in the Materia.
Competing Interests: Declaration of Competing Interest The authors declare that they have no conflict of interests.
(Copyright © 2023 Elsevier GmbH. All rights reserved.)
Databáze: MEDLINE
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