Hereditary hemochromatosis: An update vision of the laboratory diagnosis

Claudia Abadía Molina; Nuria Goñi Ros; Ricardo González Tarancón; Luis Rello Varas; Valle Recasens Flores; Silvia Izquierdo Álvarez

doi:10.1016/j.jtemb.2023.127194

Hereditary hemochromatosis: An update vision of the laboratory diagnosis

J Trace Elem Med Biol. 2023 Jul:78:127194. doi: 10.1016/j.jtemb.2023.127194. Epub 2023 May 6.

Authors

Claudia Abadía Molina¹, Nuria Goñi Ros², Ricardo González Tarancón³, Luis Rello Varas², Valle Recasens Flores⁴, Silvia Izquierdo Álvarez³

Affiliations

¹ Department of Clinical Biochemistry, Hospital Universitario Miguel Servet, Zaragoza, Spain. Electronic address: cabadiamo@salud.aragon.es.
² Department of Clinical Biochemistry, Hospital Universitario Miguel Servet, Zaragoza, Spain.
³ Genetic section, Department of Clinical Biochemistry, Hospital Universitario Miguel Servet, Zaragoza, Spain.
⁴ Department of Hematology and Hemotherapy, Hospital Universitario Miguel Servet, Zaragoza, Spain.

PMID: 37163822
DOI: 10.1016/j.jtemb.2023.127194

Abstract

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.

Keywords: Hemochromatosis; Hyperferritinemia; Iron overload.

MeSH terms

Clinical Laboratory Techniques
Genotype
Hemochromatosis Protein / genetics
Hemochromatosis* / diagnosis
Hemochromatosis* / genetics
Histocompatibility Antigens Class I / genetics
Humans
Iron Overload*
Mutation / genetics

Substances

Histocompatibility Antigens Class I
Hemochromatosis Protein