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Genes (Basel) ; 12(12)2021 12 13.
Artículo en Inglés | MEDLINE | ID: mdl-34946929

RESUMEN

Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart, pancreas, and joints. It is caused by mutations in at least five different genes. HFE hemochromatosis is the most common type of hemochromatosis, while non-HFE related hemochromatosis are rare cases. Here, we describe six new patients of non-HFE related HH from five different families. Two families (Family 1 and 2) have novel nonsense mutations in the HFE2 gene have novel nonsense mutations (p.Arg63Ter and Asp36ThrfsTer96). Three families have mutations in the TFR2 gene, one case has one previously unreported mutation (Family A-p.Asp680Tyr) and two cases have known pathogenic mutations (Family B and D-p.Trp781Ter and p.Gln672Ter respectively). Clinical, biochemical, and genetic data are discussed in all these cases. These rare cases of non-HFE related hereditary hemochromatosis highlight the importance of an earlier molecular diagnosis in a specialized center to prevent serious clinical complications.


Asunto(s)
Proteínas Ligadas a GPI/genética , Proteína de la Hemocromatosis/genética , Hemocromatosis/genética , Receptores de Transferrina/genética , Adulto , Codón sin Sentido/genética , Femenino , Proteínas Ligadas a GPI/metabolismo , Hemocromatosis/fisiopatología , Proteína de la Hemocromatosis/metabolismo , Antígenos de Histocompatibilidad Clase I/metabolismo , Humanos , Hierro/metabolismo , Hígado/metabolismo , Masculino , Proteínas de la Membrana/genética , Persona de Mediana Edad , Linaje , Receptores de Transferrina/metabolismo
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