Results 41 to 50 of about 28,106 (200)

Juvenile Hemochromatosis: Rheumatic Manifestations of 2 Sisters Responding to Deferasirox Treatment. A Case Series and Literature Review

Open Access Rheumatology: Research and Reviews, 2021
Jubran Alqanatish,1– 3 Banan Alsowailmi,1 Haneen Alfarhan,1 Albandari Alhamzah,1 Talal Alharbi1,2,4 1King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh 14611, Saudi Arabia; 2King Abdullah International Medical Research Center (
Alqanatish J, Alsowailmi B, Alfarhan H, Alhamzah A, Alharbi T   +4 more
doaj  

Idiopathic brain calcification in a patient with hereditary hemochromatosis

BMC Neurology, 2020
Background Detection of brain-MRI T2/T2* gradient echo images (T2*GRE)-hypointensity can be compatible with iron accumulation and leads to a differential diagnosis work-up including neurodegeneration with brain iron accumulation (NBIA) and Wilson Disease.
Stefania Scarlini, Francesco Cavallieri, Massimo Fiorini, Elisa Menozzi, Francesca Ferrara, Francesca Cavalleri, Chiara Reale, Barbara Garavaglia, Antonello Pietrangelo, Franco Valzania, Elena Corradini   +10 more
doaj   +1 more source

Transient elevation of serum ferritin in a Sri Lankan with homozygosity for H63D mutation in the HFE gene: a case report

Journal of Medical Case Reports, 2020
Introduction Hereditary hemochromatosis is an inherited disorder of iron metabolism, characterized by excessive iron deposition in major organs of the body, leading to multi-organ dysfunction. It is a genetically heterogeneous disease caused by mutations
Wasanthi Wickramasinghe, Chathurika Karunathilaka, Saroj Jayasinghe, Lallindra Gooneratne   +3 more
doaj   +1 more source

Neonatal Hemochromatosis [PDF]

Journal of Clinical and Experimental Hepatology, 2013
Neonatal hemochromatosis is a clinical condition in which severe liver disease in the newborn is accompanied by extrahepatic siderosis. Gestational alloimmune liver disease (GALD) has been established as the cause of fetal liver injury resulting in nearly all cases of NH.
Amy G, Feldman, Peter F, Whitington
openaire   +2 more sources

Rare types of genetic hemochromatosis

, 2009
Most types of genetic hemochromatosis are due to mutations in the HFE gene, although similar iron overload and organ damage can also result from mutations in genes other than HFE in rare types of hemochromatosis. Non-HFE hemochromatoses have been divided
C. Camschella, E. Poggiali, Clara Camaschella, Erika Poggiali   +3 more
core   +1 more source

Hemochromatosis-like disease in Brazilian tapirs (Tapirus terrestris) in Pará state, Brazil

, 2022
We report two cases of hemochromatosis-like disease in captive Brazilian tapirs, Tapirus terrestris in Pará state, Brazil. Both animals presented symptoms of chronic hepatopathy associated with marked accumulation of hemosiderin.
Rosekelly de Jesus CARDOSO (14224421), Pedro Soares BEZERRA JUNIOR (14224442), Alessandra Scofield AMARAL (14224445), Natalia Maxine F. P. SARMENTO (14224424), Valíria Duarte CERQUEIRA (14224448), Gerson Bladimir Escobar GONZALEZ (14224433), Gabriela RIET-CORREA (14224436), Manoel Ananis Lopes SOARES (14224439), Márcio Alan Oliveira MOURA (14224430), Arieli Sousa de OLIVEIRA (14224427), Adrielli Heloise dos Anjos LIMA (14224415), Américo Meirelles NETO (14224418)   +11 more
core   +1 more source

Molecular pathogenesis of hereditary hemochromatosis [PDF]

, 2016
. Hereditary hemochromatosis (HH) is an inherited iron overload disorder characterized by normal iron-driven erythropoiesis and abnormal iron metabolism, leading to excess iron deposited in parenchymal cells of liver, heart, and endocrine glands ...
Abdullahi, Mohamud Abukar Haji, Jiang, Chunmeng, Liu, Jingqi, Pu, Chunwen, Lang, Lang, Qiao, Liang   +5 more
core   +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

Panhypopituitarism Due to Hemochromatosis

Endocrinology Research and Practice, 2013
Hemochromatosis is an iron storage disease. Panhypopituitarism is a clinical condition in which the anterior pituitary hormones are deficient. Herein, we report a rare case of panhypopituitarism due to hemochromatosis.
Mesut Özkaya, Kadir Gisi, Ali Çetinkaya, Sedat Köröğlu   +3 more
doaj   +1 more source

HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case

Frontiers in Genetics, 2020
HFE-related Hemochromatosis is the most common genetic iron overload disease in European populations, particularly of Nordic or Celtic ancestry.
Wei Zhang, Wei Zhang, Wei Zhang, Xiaoming Wang, Xiaoming Wang, Xiaoming Wang, Weijia Duan, Weijia Duan, Weijia Duan, Anjian Xu, Anjian Xu, Anjian Xu, Xinyan Zhao, Xinyan Zhao, Xinyan Zhao, Jian Huang, Jian Huang, Jian Huang, Jian Huang, Hong You, Hong You, Hong You, Pierre Brissot, Xiaojuan Ou, Xiaojuan Ou, Xiaojuan Ou, Jidong Jia, Jidong Jia, Jidong Jia   +28 more
doaj   +1 more source