Results 91 to 100 of about 192,458 (292)

Population-based analysis of the frequency of HFE gene polymorphisms: Correlation with the susceptibility to develop hereditary hemochromatosis

Molecular Medicine Reports, 2016
Hereditary hemochromatosis (HH) is an autosomal recessive genetic disease, characterized by increased dietary iron absorption. Due to the absence of an effective excretory mechanism, the excess iron in the body may accumulate resulting in toxic effects ...
Martha-Spyridoula Katsarou, Rosana Latsi, Maria Papasavva, N. Demertzis, T. Kalogridis, A. Tsatsakis, D. Spandidos, N. Drakoulis   +7 more
semanticscholar   +1 more source

Testing for HFE-related haemochromatosis [PDF]

, 2011
HFE-haemochromatosis is a genetic disorder resulting from mutations of the HFE gene. It primarily affects people of Northern European descent. Clinical manifestations result from the progressive deposition of iron into various organs including the liver.
Crawford, Darrell H. G., St John, Andrew T., Stuart, Katherine A.   +2 more
core   +1 more source

The role of iron in normal and impaired testicular function

Andrology, EarlyView.
Abstract Iron plays a critical role in testicular physiology, impacting spermatogenesis, testosterone production, and overall testicular function. Iron homeostasis is maintained through systemic and cellular regulatory mechanisms, including hepcidin‐mediated systemic iron control and the iron‐responsive element/iron regulatory protein (IRE/IRP) system ...
Aileen Harrer, Esther G. Meyron‐Holtz, Andreas Meinhardt   +2 more
wiley   +1 more source

Late-onset Hemochromatosis: Co-inheritance of β-thalassemia and Hereditary Hemochromatosis in a Chinese Family: A Case Report and Epidemiological Analysis of Diverse Populations

Internal medicine, 2017
Hereditary hemochromatosis and β-thalassemia can both result in the inappropriately low production of the hormone hepcidin, which leads to an increase in intestinal absorption and excessive iron deposition in the parenchymal cells.
Jinjun Yang, Y. Lun, X. Shuai, Ting Liu, Yu Wu   +4 more
semanticscholar   +1 more source

Iron overload in hereditary spherocytosis: Are genetic factors the cause?

British Journal of Haematology, EarlyView.
Summary Non‐transfusional iron overload (IOL) in hereditary spherocytosis (HS) is poorly documented compared with other red blood cell disorders. We studied 13 HS adults with confirmed IOL to identify potential genetic factors. Using a next‐generation sequencing panel of 46 genes related to HS, anaemia and iron metabolism, we found no association ...
Lucie Donaty, Muriel Giansily‐Blaizot, Ivan Bertchansky, Séverine Cunat, Vincent Azoury, Perrine Mahe, Patricia Aguilar Martinez   +6 more
wiley   +1 more source

The SOD2 C47T polymorphism influences NAFLD fibrosis severity: evidence from case-control and intra-familial allele association studies. [PDF]

, 2011
AIMS: Non-alcoholic fatty liver disease (NAFLD) is a complex disease trait where genetic variations and environment interact to determine disease progression.
Al Serri, Ahmad, Anstee, Quentin M, Daly, Ann K, Day, Christopher P, Dongiovanni, Paola, Fargion, Silvia, Fracanzani, Anna, Leathart, Julian B S, Nobili, Valerio, Patch, Julia, Valenti, Luca   +10 more
core   +1 more source

Not All Hereditary Iron Overload Is Hemochromatosis: A Case of Hereditary Xerocytosis Unmasked by Blood Smear Morphology

American Journal of Hematology, EarlyView.
María‐Angustias Molina‐Arrebola, Barbara J. Bain   +1 more
wiley   +1 more source

Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health

Clinical Genetics, EarlyView.
In 325 exomes of South Brazilian Mennonites, we identified 23 pathogenic variants (P) and 27 likely P, with founder effects identified for 96% of P, whose frequencies differed from non‐Finnish Europeans, Amish, and Brazilian populations. ABSTRACT The Mennonite population has a unique history of 500 years of genetic isolation shaped by at least three ...
Luiza Beatriz Mayer de Lima, Eduardo Delabio Auer, Isabela Dall’Oglio Bucco, Valéria Bumiller‐Bini Hoch, Priscila Ianzen dos Santos, Fabiana L. Lopes, Alan Shuldiner, Emilton Lima Júnior, Angelica Beate Winter Boldt   +8 more
wiley   +1 more source

Association between CMR‐derived hepatic T1‐time, tricuspid regurgitation and survival

European Journal of Clinical Investigation, EarlyView.
We investigated the association between tricuspid regurgitation (TR) severity and hepatic T1‐time in 1029 patients undergoing cardiac MRI and echocardiography. Hepatic T1‐time increased progressively with TR severity and remained independently associated after adjusting for NT‐proBNP and right ventricular function. Both TR and hepatic T1‐time predicted
Katharina Mascherbauer, Christina Kronberger, Manuel Gruber, Carolina Donà, Matthias Koschutnik, Varius Dannenberg, Michael Poledniczek, Laura Lunzer, Christian Nitsche, Franz Duca, Gregor Heitzinger, Kseniya Halavina, Dietrich Beitzke, Christian Loewe, Michael Trauner, Philipp Bartko, Julia Mascherbauer, Christian Hengstenberg, Andreas Kammerlander, Elisabeth Waldmann   +19 more
wiley   +1 more source

Anemia with jaundice: An unusual cause

Medical Journal of Dr. D.Y. Patil University, 2015
Anemia and jaundice are two important clinical signs in medicine. Occurrence of these two signs together in a patient suggests hemolytic disorders. Hemochromatosis is a disease characterized by hyperpigmentation, arthralgia and diabetes.
K. V. S. Hari Kumar, A K Gupta
doaj   +1 more source