Genotypic–Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families by Olivia A. Zin, Luiza M. Neves, Daniela P. Cunha, Fabiana L. Motta, Bruna N. S. Agonigi, Dafne D. G. Horovitz, Daltro C. Almeida, Jocieli Malacarne, Ana Paula S. Rodrigues, Adriana B. Carvalho, Cinthia A. Rivello, Rita Espariz, Andrea A. Zin, Juliana M. F. Sallum, Zilton F. M. Vasconcelos

“…The objective of this case series, describing three Brazilian families, is to increase awareness of HHCS, as well as to discuss possible phenotypic interactions with concurrent mutations in <i>HFE</i>, the gene associated with autosomal recessive inheritance hereditary hemochromatosis. Whole-exome sequencing was performed in eight individuals with HHCS from three different families, as well as one unaffected member from each family for trio analysis—a total of eleven individuals. …”
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FREQUENCY OF POLYMORPHISMS IN THE HFE GENE (H63D, C282Y E S65C) IN PATIENTS WITH COVID-19 by TF Ribeiro, CRB Domingos, TDS Rodrigues, FH Borin

“…The infection process of SARS-CoV-2 leads to a substantial increase in pro-inflammatory cytokines, contributing to damage of lung epithelial cells. Hereditary hemochromatosis (HH) is a disease characterized by excessive iron in the blood, and individuals with polymorphisms in the HFE gene (H63D, C282Y e S65C) have alterations in iron metabolism, which further exacerbate the inflammatory process. …”
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The Evolution of Iron-Related Comorbidities and Hospitalization in Patients with Hemochromatosis: An Analysis of the Nationwide Inpatient Sample by Ahmad Abou Yassine, Kira MacDougall, Roula Sasso, Youssef Shammaa, Mira Alsheikh, Mohammad Abureesh, Loai Dahabra, Mohammad Alshami, Stephen Mulrooney

“…Hemochromatosis, either hereditary hemochromatosis (HH) or secondary hemochromatosis, consists of the accumulation of iron in the liver, heart, and other organs. …”
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Utilidad de los diferentes métodos no invasivos de predicción de fibrosis hepática en pacientes del País Vasco con hemocromatosis fenotípica Utility of various non-invasive methods... by A. Castiella, E. Zapata, P. Otazua, J. Fernández, J. M. Alustiza, M. Ugarte, L. Legasa, A. Galardi, A. Ugalde, I. Barredo, J. A. Arriola

“…Methods: a retrospective study of 32 patients with hereditary hemochromatosis (HH) with phenotypic expression. …”
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Uncommon mutations and polymorphisms in the hemochromatosis gene. by Pointon, J, Wallace, D, Merryweather-Clarke, A, Robson, K

“…Hereditary hemochromatosis (HH) is a common autosomal recessive disorder of iron metabolism. …”

Geography of HFE C282Y and H63D mutations. by Merryweather-Clarke, A, Pointon, J, Jouanolle, A, Rochette, J, Robson, K

“…Hereditary hemochromatosis (HH) is a common autosomal recessive disorder causing inappropriate dietary iron absorption that affects North Europeans. …”

The hemochromatosis protein HFE inhibits iron export from macrophages. by Drakesmith, H, Sweetland, E, Schimanski, L, Edwards, J, Cowley, D, Ashraf, M, Bastin, J, Townsend, A

“…Hereditary hemochromatosis (HH) is a disorder of iron metabolism caused by common mutations in the gene HFE. …”

Hemochromatosis gene (HFE) mutations in South East Asia: a potential for iron overload. by Pointon, J, Viprakasit, V, Miles, K, Livesey, K, Steiner, M, O'Riordan, S, Hien, T, Merryweather-Clarke, A, Robson, K

“…Hereditary hemochromatosis (HH) is an autosomal recessive disease caused by mutations in the HFE gene that mainly affects populations of European descent. …”

In vitro binding of HFE to the cation-independent mannose-6 phosphate receptor. by Schimanski, L, Drakesmith, H, Sweetland, E, Bastin, J, Rezgui, D, Edelmann, M, Kessler, B, Merryweather-Clarke, A, Robson, K, Townsend, A

“…Hereditary hemochromatosis is most frequently associated with mutations in HFE, which encodes a class Ib histocompatibility protein. …”

Hemochromatosis (HFE) gene mutations and risk of gastric cancer in the European Prospective Investigation into Cancer and Nutrition (EPIC) study. by Agudo, A, Bonet, C, Sala, N, Muñoz, X, Aranda, N, Fonseca-Nunes, A, Clavel-Chapelon, F, Boutron-Ruault, M, Vineis, P, Panico, S, Palli, D, Tumino, R, Grioni, S, Quirós, JR, Molina, E, Navarro, C, Barricarte, A, Chamosa, S, Allen, N, Khaw, K, Bueno-de-Mesquita, H, Siersema, P, Numans, M, Trichopoulou, A, Lagiou, P

“…Hereditary hemochromatosis (HH) is a strong risk factor for hepatocellular cancer, and mutations in the HFE gene associated with HH and iron overload may be related to other tumors, but no studies have been reported for gastric cancer (GC). …”