Results 21 to 30 of about 9,300 (174)

Bull's eye maculopathy associated with hereditary hemochromatosis

American Journal of Ophthalmology Case Reports, 2020
Purpose: To report a case of bull's eye maculopathy, a novel finding in a patient with iron overload secondary to hereditary hemochromatosis with a homozygous mutation of the HFE gene.
Kellyn N. Bellsmith, Joshua L. Dunaief, Paul Yang, Mark E. Pennesi, Ellen Davis, Holly Hofkamp, Brandon J. Lujan   +6 more
doaj   +1 more source

Brazilian family with hyperferritinemia-cataract syndrome: case report

Einstein (São Paulo), 2022
Hereditary hyperferritinemia-cataract syndrome is a rare autosomal dominant disease caused by a genetic mutation in the iron responsive element in the 5’ untranslated region of the ferritin light chain gene. Hereditary hyperferritinemia-cataract syndrome
Aline Morgan Alvarenga, Nathália Kozikas da Silva, Rodolfo Delfini Cançado, Luís Eduardo Morato Rebouças de Carvalho, Paulo Caleb Junior Lima Santos   +4 more
doaj   +1 more source

Hereditary hemochromatosis

Nursing, 2016
Hereditary hemochromatosis is an inherited iron overload disorder that can result in liver and other end-organ involvement and injury. The phenotypic expression ranges from asymptomatic to end-stage liver disease and can be separated into three stages.
Benjamin N Smith, Matthew S Chang
  +8 more sources

Asymptomatic hemochromatosis case with HFE c.1007−47G>A, c.340+4T>C heterozygous mutations and alpha globin −3.7 kb deletion

Egyptian Journal of Medical Human Genetics, 2018
Background: Hereditary hemochromatosis is a disease associated with iron deposition which is caused by the mutations in “hereditary Fe (iron)” (HFE) gene. Case: The 16-year-old male patient was diagnosed with hereditary hemochromatosis after c.1007−47G>A
Vesile Deniz Çelik, Betul Orhan Kiliç, Yasemin Ardiçoğlu Akişin, Fatma Ajlan Tükün, Nejat Akar   +4 more
doaj   +1 more source

A farewell to phlebotomy—use of placenta-derived drugs Laennec and Porcine for improving hereditary hemochromatosis without phlebotomy: a case report

Journal of Medical Case Reports, 2022
Background Human hepcidin, produced by hepatocytes, regulates intestinal iron absorption, iron recycling by macrophages, and iron release from hepatic storage.
Yuki Hamada, Eiichi Hirano, Koji Sugimoto, Keizo Hanada, Taiichi Kaku, Naoki Manda, Kenichi Tsuchida   +6 more
doaj   +1 more source

Hereditary hemochromatosis associated with autoimmune hemolytic anemia; A case report [PDF]

Journal of Preventive Epidemiology, 2019
Hereditary hemochromatosis is a disease associated with highly iron overload. This disease caused by genetic mutations inherited through family. Autoimmune hemolytic anemia is also an important autoimmune disease in which red blood cells (RBC) are ...
Masih Falahatian, Mohammad Reza Khosravi Farsani, Ali Hajigholami   +2 more
doaj  

HFE-Associated Hereditary Haemochromatosis

Canadian Journal of Gastroenterology, 2000
Hereditary hemochromatosis is a common inherited disorder of the iron metabolism. Screening studies indicate that it has a prevalence of one in 200 to 400, depending on the population studied, and a carrier rate of about one in seven to one in 10.
Emmeke J Eijkelkamp, Thomas R Yapp, Lawrie W Powell   +2 more
doaj   +1 more source

Visão atual da hemocromatose hereditária Current approach to hereditary hemochromatosis

Revista Brasileira de Hematologia e Hemoterapia, 2010
A hemocromatose hereditária (HH) está relacionada a diversos distúrbios do metabolismo do ferro que ocasionam sua sobrecarga tecidual. A HH clássica está associada às mutações do gene HFE (homozigose para C282Y ou duplo heterozigose para C282Y/H63D ...
Rodolfo Delfini Cançado, Carlos Sérgio Chiattone   +1 more
doaj   +1 more source

Hereditary hemochromatosis: pathogenesis, symptoms, diagnosis and current treatment - literature review

Journal of Education, Health and Sport
Introduction: Hereditary hemochromatosis is the most common genetic disorder in Northern Europe. It involves an overload of iron in the tissues due to a deficiency of the protein hepcidin.
Dominika Prystacka-Szar, Natalia Rulewska, Filip Grabowski, Jakub Siemko, Dagmara Neska , Justyna Stadler-Szajda, Adrianna Czyżnikiewicz, Wenancjusz Stołowski, Magdalena Bujak, Magdalena Waśniowska   +9 more
doaj   +1 more source

Disseminated cryptococcosis and hemochromatosis: clues to diagnosis

Autopsy and Case Reports, 2021
Hepatic cirrhosis, diabetes mellitus and iron overload can each independently predispose to cryptococcosis. Hereditary hemochromatosis leads to all three of these predispositions.
Larry Nichols, Lindsey Rowley, Ashley Lall   +2 more
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