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hereditary hemochromatosis

Serena Pelusi, Federica Iuculano, Rosa Lombardi, Paolo Francione, Umberto Gianelli, Anna Ludovica Fracanzani, Silvia Fargion
No abstract text is available yet for this article.
September 14, 2018: Internal and Emergency Medicine
Caglar Doguer, Jung-Heun Ha, James F Collins
Iron and copper have similar physiochemical properties; thus, physiologically relevant interactions seem likely. Indeed, points of intersection between these two essential trace minerals have been recognized for many decades, but mechanistic details have been lacking. Investigations in recent years have revealed that copper may positively influence iron homeostasis, and also that iron may antagonize copper metabolism. For example, when body iron stores are low, copper is apparently redistributed to tissues important for regulating iron balance, including enterocytes of upper small bowel, the liver, and blood...
September 14, 2018: Comprehensive Physiology
Barjinderjit Kaur Dhillon, Gunjan Chopra, Manu Jamwal, Giri Raj Chandak, Ajay Duseja, Pankaj Malhotra, Yogesh Kumar Chawla, Gurjeewan Garewal, Reena Das
Hereditary hemochromatosis (HH) is a rare disorder in Indians and is not associated with the common mutation Cys282Tyr in HFE gene found in Caucasians. Non-HFE HH can be associated with mutations in HJV, HAMP, TFR2 and SLC40A1 genes. Nineteen unrelated north Indian HH patients were detected after screening 258 chronic liver disease patients on the basis of increased transferrin saturation, ferritin levels >1000 ng/L and siderosis by Perl's stain on liver biopsy wherever available. Automated DNA sequencing was performed for the promoters and entire coding exons for HFE, HJV, HAMP, TFR2 and SLC40A1...
August 27, 2018: Blood Cells, Molecules & Diseases
Majid Alfadhel, Amir Babiker
Inborn errors of metabolism (IEM) are heterogeneous group of disorders that might present in the clinics or emergency departments in different phenotypes, and one of these is a diabetes scenario. Diabetes is the most common endocrine disorder among children. The mechanism of how IEM could lead to diabetes is unclear; however, the postulated pathogenesis consists of three mechanisms: 1) accumulation of toxic substance in the gland, ruining structure and normal functionality, 2) disturbing energy availability required for hormone synthesis and 3) defect of complex molecules...
2018: Sudanese Journal of Paediatrics
Jin Zhang, Xinbin Chen
Iron is an essential nutrient for all living organisms and plays a vital role in many fundamental biochemical processes, such as oxygen transport, energy metabolism, and DNA synthesis. Due to its capability to produce free radicals, iron has deleterious effects and thus, its level needs to be tightly controlled in the body. Deregulation of iron metabolism is known to cause diseases, including anemia by iron deficiency and hereditary hemochromatosis by iron overload. Interestingly, dysregulated iron metabolism occurs frequently in tumor cells and contributes to tumorigenesis...
August 22, 2018: FEBS Journal
Masaru Shimura, Shigeo Nishimata, Naoko Saito, Norito Tsutsumi, Shinji Suzuki, Yasuyuki Morishima, Yasuyo Kashiwagi, Hironao Numabe, Hisashi Kawashima
Therapeutic phlebotomy is recommended for treating hereditary hemochromatosis. However, the procedure and its efficacy for children remain unclear. We describe a young female patient with ferroportin disease, which was confirmed from excess iron deposition within hepatocytes and by identifying a heterozygous variant p.Cys326Phe in SLC40A1. She had been followed without phlebotomy. Liver histology at age 13 years revealed iron deposition progression. Phlebotomy was initiated and her iron markers and imaging findings improved without severe adverse effects...
August 20, 2018: Journal of Pediatric Hematology/oncology
Axel Braner
Arthropathy is the most common and often the earliest clinical manifestation of hereditary hemochromatosis (HH). It is difficult to treat and there is a high risk for early endoprosthetic joint replacement. Research done during the last decade shows that it is a joint disease in its own right. Clinically, there are degenerative articular changes with an atypical pattern of distribution, a crystal arthropathy (CPPD) with congenital joint swelling and synovitis like in RA. The X-ray image shows typical but not exclusive findings...
August 2018: Deutsche Medizinische Wochenschrift
Anthony P Fiegen, B Joel Tjarks, Tanner J Ferguson, Renita A Goetz, Allie E Ladd, Kimberlee C Tams
Alpha-1 antitrypsin (AAT) deficiency and hereditary hemochromatosis are systemic diseases inherited in an autosomal recessive fashion. The primary manifestation of AAT is early-onset pulmonary disease, while hemochromatosis primarily affects function of the liver, heart, and pancreas through excess iron deposition. No clear association between the two diseases has been delineated. We present a case in which a 34-year old female patient presenting with elevated liver enzymes during a visit for an unrelated acute illness was found to be a homozygous variant for AAT deficiency and hereditary hemochromatosis...
March 2018: South Dakota Medicine: the Journal of the South Dakota State Medical Association
Ammar A Khayat, Mariko Suchi, Bernadette Vitola
No abstract text is available yet for this article.
July 6, 2018: Journal of Pediatric Gastroenterology and Nutrition
Shmuel Golfeyz, Sara Lewis, Ilan S Weisberg
Hereditary hemochromatosis (HH) is an autosomal recessive disorder that occurs in approximately 1 in 200-250 individuals. Mutations in the HFE gene lead to excess iron absorption. Excess iron in the form of non-transferrin-bound iron (NTBI) causes injury and is readily uptaken by cardiomyocytes, pancreatic islet cells, and hepatocytes. Symptoms greatly vary among patients and include fatigue, abdominal pain, arthralgias, impotence, decreased libido, diabetes, and heart failure. Untreated hemochromatosis can lead to chronic liver disease, fibrosis, cirrhosis, and hepatocellular carcinoma (HCC)...
August 2018: Expert Review of Gastroenterology & Hepatology
E Veitsman, E Pras, O Pappo, A Arish, R Eshkenazi, C Feray, J Calderaro, D Azoulay, Z Ben Ari
Hereditary hemochromatosis (HH) is a genetic disease associated with progressive iron overload, eventually leading in some cases to damage of parenchymal organs, such as the liver, pancreas, and heart. Although the gene had been identified (HFE), HH pathogenesis remains to be fully elucidated. We report here, for the first time, a case of inadvertent transplantation of a liver from a donor with C282Y/H63D compound heterozygosity into a nonhemochromatotic 19-year-old Caucasian male recipient with primary sclerosing cholangitis...
2018: Case Reports in Hepatology
Jana Frydlova, Daniel W Rogalsky, Jaroslav Truksa, Lisa Traeger, Andrea U Steinbicker, Martin Vokurka, Jan Krijt
Although the relationship between hereditary hemochromatosis and mutations in the HFE gene was discovered more than 20 years ago, information on the in vivo regulation of HFE protein expression is still limited. The purpose of the study was to determine the response of liver HFE protein content to iron deficiency in mice and rats by immunoblotting. Attempts to visualize the HFE protein in whole liver homogenates were unsuccessful; however, HFE could be detected in liver microsomes or in plasma membrane-enriched fractions...
June 21, 2018: American Journal of Physiology. Gastrointestinal and Liver Physiology
Sandeep Basu, Kanika Jalodia, Shashi Ranjan, Jing-Ruey J Yeh, Randall T Peterson, Chetana Sachidanandan
Hereditary hemochromatosis (HH) is one of the most common genetic disorders in Caucasian populations, with no viable therapeutic options except phlebotomy. We describe a zebrafish model of human HH (HH) created by targeted mutagenesis of the gene encoding transferrin receptor 2 ( tfr2). TFR2 mutations in humans lead to HH Type 3, a rare but severe form of the disease. The tfr2 mutant model in zebrafish recapitulates the defining features of HH3: iron overload and suppression of hepcidin, the iron regulatory hormone...
August 17, 2018: ACS Chemical Biology
J Scott Gabrielsen, Dolores J Lamb, Larry I Lipshultz
PURPOSE OF REVIEW: To discuss the physiologic and pathologic effects of iron on men's reproductive health. RECENT FINDINGS: Iron overload diseases are associated with hypogonadotropic hypogonadism, infertility, and sexual dysfunction in men. Recent findings have elucidated the roles by which iron may affect the male reproductive axis. Iron is requisite for life. Iron can also catalyze the production of reactive oxygen species. To maintain balance, the human body tightly regulates dietary iron absorption...
June 1, 2018: Current Urology Reports
Cornel S G Mirciov, Sarah J Wilkins, Gregory J Anderson, David M Frazer
Iron-loading disorders, such as hereditary hemochromatosis, are associated with inappropriately low expression of the iron regulatory hormone, hepcidin. A recent study has demonstrated that food deprivation can increase hepcidin production in mice. We have examined this effect in more detail to determine whether the pathway(s) that are responsible might provide novel targets for pharmaceutical intervention in disorders of iron homeostasis. C57BL/6 mice were deprived of food for 5, 10, 16, or 24 h before euthanasia, then blood and tissue samples were collected for analysis...
May 25, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
Wilbert S Aronow
Iron-overload syndromes may be hereditary or acquired. Patients may be asymptomatic early in the disease. Once heart failure develops, there is rapid deterioration. Cardiac hemochromatosis is characterized by a dilated cardiomyopathy with dilated ventricles, reduced ejection fraction, and reduced fractional shortening. Deposition of iron may occur in the entire cardiac conduction system, especially the atrioventricular node. Cardiac hemochromatosis should be considered in any patient with unexplained heart failure...
April 2018: Archives of Medical Science: AMS
Sumit Punj, Yassmine Akkari, Jennifer Huang, Fei Yang, Allison Creason, Christine Pak, Amiee Potter, Michael O Dorschner, Deborah A Nickerson, Peggy D Robertson, Gail P Jarvik, Laura M Amendola, Jennifer Schleit, Dana Kostiner Simpson, Alan F Rope, Jacob Reiss, Tia Kauffman, Marian J Gilmore, Patricia Himes, Benjamin Wilfond, Katrina A B Goddard, C Sue Richards
Advances in sequencing technologies permit the analysis of a larger selection of genes for preconception carrier screening. The study was designed as a sequential carrier screen using genome sequencing to analyze 728 gene-disorder pairs for carrier and medically actionable conditions in 131 women and their partners (n = 71) who were planning a pregnancy. We report here on the clinical laboratory results from this expanded carrier screening program. Variants were filtered and classified using the latest American College of Medical Genetics and Genomics (ACMG) guideline; only pathogenic and likely pathogenic variants were confirmed by orthologous methods before being reported...
June 7, 2018: American Journal of Human Genetics
Haluk Tarık Kani, Feyza Gündüz
No abstract text is available yet for this article.
March 2018: Turkish Journal of Gastroenterology: the Official Journal of Turkish Society of Gastroenterology
Kam Sandhu, Kaledas Flintoff, Mark D Chatfield, Jeannette L Dixon, Louise E Ramm, Grant A Ramm, Lawrie W Powell, V Nathan Subramaniam, Daniel F Wallace
The clinical progression of HFE-related hereditary hemochromatosis (HH) and its phenotypic variability has been well studied. Less is known about the natural history of non-HFE HH caused by mutations in the HJV , HAMP , or TFR2 genes. The purpose of this study was to compare the phenotypic and clinical presentations of hepcidin-deficient forms of HH. A literature review of all published cases of genetically confirmed HJV, HAMP, and TFR2 HH was performed. Phenotypic and clinical data from a total of 156 patients with non-HFE HH was extracted from 53 publications and compared with data from 984 patients with HFE -p...
July 5, 2018: Blood
Miriam García García
I present a clinical case of a 64-year-old male patient with hemochromatosis (homozygous C282Y) and crystal induced arthropathy showing the most common radiological features found in this metabolic disorder and the differences that may exist when compared to other primary degenerative processes or other inflammatory pathologies.
May 3, 2018: Reumatología Clinica
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