Results 91 to 100 of about 3,374,032 (169)

Hemochromatosis: Hereditary hemochromatosis and HFE gene

, 2019
Hereditary Hemochromatosis (HH) is an autosomal recessive genetic disease, characterized by an excessively increased absorption of dietary iron. Excess iron can be accumulated because of the lack of an effective excretory mechanism leading to toxic ...
Drakoulis, N., Katsarou, M.-S., Latsi, R., Papasavva, M.   +3 more
core   +1 more source

Isolated Non-Progressive Hemidystonia in a Patient Homozygous for H63D Variant of Hereditary Hemochromatosis: A Case Report and Systematic Literature Review of Movement Disorders in Hereditary Hemochromatosis

Diagnostics
Background: Hereditary hemochromatosis (HH) is a genetic disorder of iron metabolism, characterized by progressive iron accumulation. Neurological involvement, which can manifest with various symptoms, including movement disorders, is uncommon.
Stefania Kalampokini, Andreas Plaitakis, Cleanthe Spanaki, Georgia Xiromerisiou   +3 more
doaj   +1 more source

Uncommon mutations and polymorphisms in the hemochromatosis gene

, 2004
Hereditary hemochromatosis (HH) is a common autosomal recessive disorder of iron metabolism. Iron absorption from the gut is inappropriately high, resulting in increasing iron overload.
Robson, Kathryn J.H., Wallace, Daniel F., Pointon, Jennifer J., Merryweather-Clarke, Alison T.   +3 more
core   +1 more source

Recurrent BMP4 variants in exon 4 cause non-HFE-associated hemochromatosis via the BMP/SMAD signaling pathway

Orphanet Journal of Rare Diseases
Background Hereditary hemochromatosis (HH) is an iron overload disorder and can be caused by variants in non-HFE genes in Chinese patients. However, there is still a considerable proportion of patients suffering from unexplained iron overload.
Qin Ouyang, Yanmeng Li, Anjian Xu, Ning Zhang, Sisi Chen, Donghu Zhou, Bei Zhang, Xiaojuan Ou, Jidong Jia, Jian Huang, Wei Zhang   +10 more
doaj   +1 more source

Hyperferritinemia at the patient with chronic hepatitis C

Российский журнал гастроэнтерологии, гепатологии, колопроктологии, 2009
The aim of clinical case presentation. To represent the patient with chronic hepatitis C with severe hyperferritinemia and absence of dominant mutations of hereditary hemochromatosis gene.Clinical case data.
Ye. N. German, A. O. Buyeverov, M. V. Mayevskaya, Ch. S. Pavlov, V. T. Ivashkin, A. A. Levina   +5 more
doaj  

Liver cirrhosis associated with double heterozygosity for genetic hemochromatosis (H63D) and alpha-1 antitrypsin deficiency (M-Malton) – A case report

Journal of Pediatric and Neonatal Individualized Medicine
Genetic hemochromatosis (GH) and alpha-1 antitrypsin (AAT) deficiency (AATD)  are two autosomal recessive disorders associated with an increased risk for liver injury. Among different AATD and GH genotypes, the M-Malton and the S variants are frequent in
Gavino Faa, Giuseppina Pichiri, Stefano Coni, Anna Annunziata, Giuseppe Fiorentino, Marco Piludu, Monica Piras, Pierpaolo Coni   +7 more
doaj   +1 more source

Variable expressivity of HJV related hemochromatosis: “Juvenile” hemochromatosis?

, 2019
International audienceJuvenile hemochromatosis is a rare autosomal recessive disease due to variants in the Hemojuvelin (HJV) gene. Although biological features mimic HFE hemochromatosis, clinical presentation is worst with massive iron overload ...
Detivaud, Lenaick, Aggoune, Samira, Pelletier, Gilles, Deugnier, Yves, David, Véronique, Ropert, Martine, Simon, Dominique, Bardou-Jacquet, Edouard, Ben Ali, Zeineb, Hamdi-Roze, Houda   +9 more
core   +1 more source

Iron overload due to mutations in ferroportin

Haematologica, 2006
Iron overload disease due to mutations in ferroportin has a dominant inheritance and a variable clinical phenotype, such that some patients show early Kupffer cell iron loading and low transferrin saturation, while others show hepatocyte iron loading and
I De Domenico, DM Ward, G Musci, J Kaplan   +3 more
doaj  

Cancer Epidemiol Biomarkers Prev [PDF]

Background:Experimental studies suggest that iron overload might increase pancreatic cancer (PC) risk. We evaluated whether prediagnostic hemochromatosis and iron-overload diseases, including sideroblastic and congenital dyserythropoietic anemias and non-

core  

The hemochromatosis protein HFE signals predominantly via the BMP type I receptor ALK3 in vivo. [PDF]

Commun Biol, 2018
Traeger L, Enns CA, Krijt J, Steinbicker AU.   +3 more
europepmc   +1 more source