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| http://dx.doi.org/10.1128/AAC.01611-07 | DOI Listing |
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Sex and Gender Differences in Iron Chelation.
Biomedicines
December 2024
Department of Clinical and Biological Sciences, University of Turin, San Luigi Gonzaga University Hospital, 10043 Orbassano, Italy.
Background/objectives: In the absence of physiological mechanisms to excrete excessive iron, the administration of iron chelation therapy is necessary. Age and hormones have an impact on the absorption, distribution, metabolism, and excretion of the medications used to treat iron excess, resulting in notable sex- and gender-related variances.
Methods: Here, we aimed to review the literature on sex and gender in iron overload assessment and treatment.
[Analysis of clinical, gene mutation characteristics, and treatment prognosis of type 2A hereditary hemochromatosis in the Chinese population].
Zhonghua Gan Zang Bing Za Zhi
November 2024
Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing100050, China National Clinical Research Center for Digestive Diseases, Beijing100050, China.
To analyze the clinical, genetic mutation characteristics, and treatment prognosis of type 2A hereditary hemochromatosis (HH) in China. Peripheral blood samples and clinical data of patients with primary iron overload were collected through the China Registry of Genetic/Metabolic Liver Disease from June 2015 to November 2023. HH-related genes were detected by Sanger sequencing.
View Article and Find Full Text PDFBilateral cataracts in a three-year-old with deficiency of adenosine deaminase 2 (DADA2), hyperferritinemia, and prolonged steroid use.
Ophthalmic Genet
November 2024
School of Medicine, University of Colorado, Aurora, USA.
Background: Deficiency of adenosine deaminase 2 (DADA2) is a rare autosomal recessive autoinflammatory disorder associated with systemic vasculitis and bone marrow failure. Reported ophthalmic findings in DADA2 include optic neuritis, retinal artery occlusion, uveitis, and optic atrophy. We report the case of a child found to have bilateral cataracts.
View Article and Find Full Text PDFCase report: Acute liver failure during deferasirox therapy and the potential role of pharmacogenetics.
Front Pharmacol
October 2024
Institute of Pharmacogenetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Background And Aims: A number of case reports have documented the occurrence of acute hepatic and renal toxicity during treatment with deferasirox (DFX). The precise mechanisms underlying these adverse events remain unclear, with the time to toxicity varying considerably between patients-some experiencing it within weeks of treatment initiation, while others after several years. Recent studies have underscored the association of pharmacogenetic variants in genes responsible for the metabolism and clearance of DFX (, , and ) in the development of toxicity.
View Article and Find Full Text PDFATH434, a promising iron-targeting compound for treating iron regulation disorders.
Metallomics
October 2024
De partment of Pharmaceutical Sciences, Wayne State University, Detroit, MI 48201, USA.
Cytotoxic accumulation of loosely bound mitochondrial Fe2+ is a hallmark of Friedreich's Ataxia (FA), a rare and fatal neuromuscular disorder with limited therapeutic options. There are no clinically approved medications targeting excess Fe2+ associated with FA or the neurological disorders Parkinson's disease and Multiple System Atrophy. Traditional iron-chelating drugs clinically approved for systemic iron overload that target ferritin-stored Fe3+ for urinary excretion demonstrated limited efficacy in FA and exacerbated ataxia.
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