Results 111 to 120 of about 192,106 (299)

HLA and hemochromatosis disease association in São Miguel Island [PDF]

, 2008
Mestrado em Biologia Molecular e CelularA hemocromatose hereditária uma doença autossómica recessiva do metabolismo do ferro, geralmente associada à mutação C282Y no gene HFE. Presume-se que a origem desta mutação tenha ocorrido por acaso no haplótipo
Gomes, Cidália Maria Teixeira
core   +1 more source

A case of depression with psychotic features associated with hemoglobin Manukau mutation

Psychiatry and Clinical Neurosciences Reports, Volume 4, Issue 3, September 2025.
Abstract Background It is pertinent to investigate organic possibilities in acute presentation of mental illness. Iron‐deficiency anemia has long been established to cause symptoms of major depressive disorder. The association between depression and hemolytic anemia and hemochromatosis is less understood.
Zhonghao Zhang, Alana Greenberg, Linda Rose, Thilini Jayasooriya, Naveen Thomas, Soumitra Das   +5 more
wiley   +1 more source

Hypoferremic Response to Chronic Inflammation Is Controlled via the Hemojuvelin/Hepcidin/Ferroportin Axis and Does Not Involve Hepcidin‐Independent Regulation of Fpn mRNA

American Journal of Hematology, Volume 100, Issue 8, Page 1323-1333, August 2025.
ABSTRACT The iron regulatory hormone hepcidin contributes to the pathogenesis of anemia of inflammation (AI) by inhibiting the iron exporter ferroportin in target cells, causing hypoferremia. Under acute inflammation, hepcidin induction requires hemojuvelin (Hjv), a bone morphogenetic protein co‐receptor, while Fpn mRNA is also suppressed in a hepcidin‐
Siqi Liu, Sofiya Tsyplenkova, Carine Fillebeen, Kostas Pantopoulos   +3 more
wiley   +1 more source

Do All Hemochromatosis Patients Have the Same Origin? A Pilot Study of Mitochondrial DNA and Y-DNA

Canadian Journal of Gastroenterology, 2011
BACKGROUND: Mitochondrial DNA (mtDNA) and Y-DNA analysis have been widely used to predict ancestral origin. Genetic anthropologists predict that human civilizations may have originated in central Africa one to two million years previously.
Caitlin J Symonette, Paul C Adams
doaj   +1 more source

Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review

Orphanet Journal of Rare Diseases, 2019
Hereditary hemochromatosis (HH) is a genetic disorder that causes excess absorption of iron and can lead to a variety of complications including liver cirrhosis, arthritis, abnormal skin pigmentation, cardiomyopathy, hypogonadism, and diabetes ...
Xiaomu Kong, Lingding Xie, Haiqing Zhu, Lulu Song, Xiaoyan Xing, Wenying Yang, Xiaoping Chen   +6 more
doaj   +1 more source

Interaction of hemojuvelin with neogenin results in iron accumulation in human embryonic kidney 293 cells [PDF]

, 2005
Type 2 hereditary hemochromatosis (HH) or juvenile hemochromatosis is an early onset, genetically heterogeneous, autosomal recessive disorder of iron overload.
Bjorkman, Pamela J., Enns, Caroline A., West, Anthony P., Jr., Wyman, Anne E., Zhang, An-Sheng   +4 more
core   +1 more source

Next Generation Sequencing Allows Identification of a Novel Mutation in the TfR2 Gene and Outperforms the Conventional Diagnostic Techniques

eJHaem, Volume 6, Issue 4, August 2025.
ABSTRACT Introduction Type 3 hereditary hemochromatosis (HH) is a rare genetic disease due to mutations in the transferrin receptor 2 (TFR2) gene. Methods and Results Here, we describe the case of an Italian patient presenting with hyperferritinemia and hepatic iron accumulation, not evidenced by magnetic resonance imaging, that was subsequently ...
Miriam Longo, Erika Paolini, Marica Meroni, Felice Cinque, Cristina Bertelli, Giuseppina Pisano, Marco Maggioni, Anna Ludovica Fracanzani, Rosa Lombardi, Paola Dongiovanni   +9 more
wiley   +1 more source

HFE variants and the expression of iron-related proteins in breast cancer-associated lymphocytes and macrophages [PDF]

, 2016
Disponível em: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5264664/The association of HFE (High Iron FE) major variants with breast cancer risk and behavior has been a matter of discussion for a long time. However, their impact on the expression of iron-
A Waheed, A Waheed, A Walsh, Alexandra Rêma, Ana Rosa, B Halliwell, B Manger, Berta Martins da Silva, BK Abraham, Carlos Lopes, DB Kell, DM Paulnock, E Nemeth, E Nemeth, F D’Alessio, G Porto, Graça Porto, HJH Fenton, J Waalen, JA Lebron, JL Babitt, JL Babitt, JN Feder, JN Feder, JN Feder, JW Eaton, K Miyazono, Luciana Leite, M Kelley, M Vujic Spasic, NC Andrews, O Marques, O Marques, Oriana Marques, P Aguilar-Martinez, Paula Faustino, PJ Schmidt, S Duijn van, SG Gray, SY Lee, SY Lee, T Ganz, T Goswami   +42 more
core   +1 more source

Evaluation of a High Throughput Method for the Detection of Mutations Associated with Thrombosis and Hereditary Hemochromatosis in Brazilian Blood Donors

PLoS ONE, 2015
Background The aim of this study was to evaluate the OpenArray platform for genetic testing of blood donors and to assess the genotype frequencies of nucleotide-polymorphisms (SNPs) associated with venous thrombosis (G1691A and G20210A ...
Vivian Dionisio Tavares Niewiadonski, Juliana Vieira dos Santos Bianchi, C. de Almeida-Neto, N. Gaburo, E. Sabino   +4 more
semanticscholar   +1 more source

Mutation Analysis in Hereditary Hemochromatosis

Blood Cells, Molecules, and Diseases, 1996
The DNA of 147 patients of European origin clinically diagnosed with idiopathic hemochromatosis and 193 controls was examined for mutations of the HLA-H gene at nt 845 and nt 187. One hundred twenty-one (82.3%) of the hemochromatosis patients were homozygous and 10 (6.8%) heterozygous for the 845A (C282Y) mutation.
Michele Adams, Michael P. Kosty, Amy E. Ten Elshof, Charles P. Venditti, Charles P. Venditti, Carol West, Glenn S. Gerhard, Pauline Lee, Pradyumna D. Phatak, Terri Gelbart, Ryan Blackstone, Ernest Beutler, Karen Chorney, Michael J. Chorney, Paul J. Pockros, Nicole K. Seese   +15 more
openaire   +3 more sources