Hereditary hemochromatosis: An update vision of the laboratory diagnosis

被引:3
作者
Molina, Claudia Abadia [1 ]
Ros, Nuria Goni [1 ]
Tarancon, Ricardo Gonzalez [2 ]
Varas, Luis Rello [1 ]
Flores, Valle Recasens [3 ]
Alvarez, Silvia Izquierdo [2 ]
机构
[1] Hosp Univ Miguel Servet, Dept Clin Biochem, C Padre Arrupe S-N Planta 3a, Zaragoza 50009, Spain
[2] Hosp Univ Miguel Servet, Dept Clin Biochem, Genet Sect, Zaragoza, Spain
[3] Hosp Univ Miguel Servet, Dept Hematol & Hemotherapy, Zaragoza, Spain
关键词
Iron overload; Hemochromatosis; Hyperferritinemia; ASSOCIATION; GUIDELINES; MUTATIONS; HFE;
D O I
10.1016/j.jtemb.2023.127194
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Haemochromatosis (HC) is an inherited disorder of iron metabolism. The 85-90% of Hereditary hemochroma-tosis 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.
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页数:4
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[41]   Hemochromatosis classification: update and recommendations by the BIOIRON Society [J].
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