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Adult-onset Still's disease (AOSD) is a form of Still's disease, a rare systemic autoinflammatory disease characterized by the classic triad of fevers, joint pain, and a distinctive salmon-colored bumpy rash. The disease is considered a diagnosis of exclusion. [1] Levels of the iron-binding protein ferritin may
In children, a ferritin above 10000 μg/L is very sensitive and specific for the diagnosis of HLH, [17] however, the diagnostic utility for ferritin is less for adult HLH patients. [18] The serum fibrinogen level is usually low and the D-dimer level is elevated. [citation needed] The sphingomyelinase is elevated. [19] Bone marrow biopsy shows ...
Iron overload (also known as haemochromatosis or hemochromatosis) is the abnormal and increased accumulation of total iron in the body, leading to organ damage. [1] The primary mechanism of organ damage is oxidative stress, as elevated intracellular iron levels increase free radical formation via the Fenton reaction.
Ferritin genes are highly conserved between species. All vertebrate ferritin genes have three introns and four exons. [8] In human ferritin, introns are present between amino acid residues 14 and 15, 34 and 35, and 82 and 83; in addition, there are one to two hundred untranslated bases at either end of the combined exons. [9]
[41] [42] [43] In a 2014 study, H63D homozygosity was associated with an elevated mean ferritin level, but only 6.7% had documented iron overload at follow-up. [44] As about the people with one copy of the H63D alteration (heterozygous carriers), this genotype is very unlikely to cause a clinical presentation, there is no predictable risk of ...
14319 Ensembl ENSG00000167996 ENSMUSG00000024661 UniProt P02794 P09528 RefSeq (mRNA) NM_002032 NM_010239 RefSeq (protein) NP_002023 NP_034369 Location (UCSC) Chr 11: 61.96 – 61.97 Mb Chr 19: 9.96 – 9.96 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Ferritin heavy chain is a ferroxidase enzyme that in humans is encoded by the FTH1 gene. FTH1 gene is located on chromosome 11, and ...
Neuroferritinopathy is a genetic neurodegenerative disorder characterized by the accumulation of iron in the basal ganglia, cerebellum, and motor cortex of the human brain. Symptoms, which are extrapyramidal in nature, progress slowly and generally do not become apparent until adulthood. [ 1 ]
Blood testing of the soluble transferrin receptor (sTfR) is used as a measure of functional iron status and the investigation of iron deficiency anemia. Ferritin , a routine investigation for anemia, is an acute-phase reactant , and may be elevated in states of inflammation , thereby falsely indicating that iron stores are adequate. [ 2 ]