Hereditary hemochromatosis is the most common cause of iron overload. The diagnosis of hereditary hemochromatosis has improved since Feder et al. isolated the HFE gene in 1996 and discovered the mutations related with this disease. Nevertheless, in many cases genetic tests for hereditary hemochromatosis are negative. These cases require diagnostic confirmation by quantifying the concentration of iron in the liver (LIC); this has traditionally been accomplished by liver biopsy. Many studies have shown that it is possible to quantify LIC using MRI. However, a consensus has yet to be reached about the most appropriate technique or whether it is possible to reproduce the same methods of calculation on different MRI units. This article reviews the current state of these questions and points to possible lines to standardize this noninvasive method of quantifying LIC in the future.
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http://dx.doi.org/10.1016/s0033-8338(08)71926-x | DOI Listing |
Cureus
December 2024
Internal Medicine, National Hospital of Sri Lanka, Colombo, LKA.
Hereditary hemochromatosis occurs due to genetic mutations, namely, cysteine-to-tyrosine substitution at amino acid 282 (C282Y) and histidine-to-aspartic acid substitution at 63 (H63D) mutations. The role of H63D mutation in hemochromatosis is less clear, and its penetrance is low even in homozygotes. Therefore, iron overload in H63D heterozygotes is extremely rare and scarcely reported.
View Article and Find Full Text PDFIntroduction: The aim of this study was to define the relationships between factors other than transferrin saturation (TS) to mean corpuscular volume (MCV) and macrocytosis (MCV > 100 fL) in p.C282Y (rs1800562) homozygotes.
Methods: We studied white post-screening participants with p.
Cureus
December 2024
Department of Hematology, Hamad Medical Corporation, Doha, QAT.
This study conducts a bibliometric analysis (BA) to map the research landscape surrounding chronic kidney disease (CKD) and iron overload over the past decade. Utilizing PubMed as the primary database, a systematic search strategy was developed using BA guidelines, incorporating keyword and MeSH term refinements for comprehensive data retrieval. A Boolean operator-based search strategy was applied, capturing literature from 2014 to the first quarter of 2024, with inclusion criteria focusing on articles and review articles published in English.
View Article and Find Full Text PDFNarra J
December 2024
Department of Biology, Faculty of Mathematics and Natural Sciences, Universitas Padjadjaran, Jatinangor, Indonesia.
Iron overload in transfusion-dependent thalassemia patients represents a significant public health challenge due to its high mortality rate and risks of severe complications. Therefore, developing safe and effective therapeutic modalities for managing iron overload is critical, as current animal models inadequately replicate human conditions. The aim of this study was to investigate the effects of intravenous iron dextran on hepatocyte morphology, liver iron concentration, and serum iron profile changes as a model for hemochromatosis.
View Article and Find Full Text PDFDtsch Med Wochenschr
January 2025
RZ Rheumazentrum Rheinland-Pfalz GmbH, Bad Kreuznach, Deutschland.
A 54-year-old man presented with increasing arthralgia and swelling of the metacarpophalangeal (MCP) joints II and III for approximately 2 years. He also reported morning stiffness and joint pain in both knees and feet.Both MCP joints II and III and the proximal interphalangeal joints II and III were tender without visible swelling.
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