Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P02794 (ferritin)
 17,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Liver dysfunction as measured by S-ALAT activity was present in 72% of patients over 40 years of age with HLA-related iron overload, mainly detected by laboratory screening. Liver dysfunction was correlated to the amount of iron stored (r = 0.54, p less than 0.001). When iron was removed by phlebotomy, liver function returned to normal. S-ALAT activity was closely correlated to serum ferritin concentration (r = 0.73, p less than 0.001). Even a mild iron excess can affect hepatocytes and result in increased levels of ferritin and aminotransferases in serum. Patients with "transaminitis" should be investigated for iron overload.
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PMID:Liver affection in iron overload studied with serum ferritin and serum aminotransferases. 397 36

HLA-antigens were determined in 21 unrelated patients with idiopathic haemochromatosis and in eight siblings and 13 children of the probands. The prevalences of HLA-A3, B7, and B14 in patients compared to 1967 healthy control subjects were: A3, 76.2% versus 26.9% (p less than 0.0001); B7, 57.1% versus 26.8 (p less than 0.001); B14, 9.5% versus 4.5% (n.s.); A3 and B7, 42.9% versus 12.2% (p less than 0.0001); A3 and B14, 9.5% versus 1.4% (p less than 0.001). Siblings (n = 3) that were HLA-identical with the proband were considered to be homozygotes for the haemochromatosis allele and presented with preclinical haemochromatosis. Siblings and children (n = 17) having only one HLA-haplotype in common with the proband were considered to be heterozygotes. Biochemical markers for haemochromatosis (transferrin saturation and serum ferritin) were higher in homozygous than in heterozygous subjects (p less than 0.0001). The results confirm the association between the HLA-A and B loci and the haemochromatosis gene. HLA-typing is a valuable tool in the identification of the haemochromatosis genotype in a family, and it is an adjunct to the biochemical screening procedure in relatives of patients with this iron overload disorder.
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PMID:HLA determinants in idiopathic haemochromatosis. 405 96

Unexplained proximal muscle weakness developed in 10 patients on chronic maintenance haemodialysis. Proximal muscle biopsy in 7 patients disclosed iron deposition in muscle fibres and/or macrophages. All 10 patients had severe iron overload (serum-ferritin level > 1000 ng/ml). Since HLA-A3, B7, and B14 antigens are associated with idiopathic haemochromatosis and, therefore, are linked with alleles regulating iron metabolism, HLA type was reviewed in 61 haemodialysis patients, including the 10 myopathic patients. Serum-ferritin levels showed a significant correlation (p<0.001) with the presence of the HLA-antigens. Close relatives of these patients with HLA-antigen-associated iron-overload myopathy did not have raised serum-ferritin levels. Patients on maintenance haemodialysis who have inherited the "haemochromatosis alleles" thus have an increased risk of iron overload and muscle iron deposition.
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PMID:iron-overload-associated myopathy in patients on maintenance haemodialysis: a histocompatibility-linked disorder. 610 46

Serum ferritin and hepatic enzyme concentrations were measured in 30 alcoholic subjects. Both the serum ferritin and gamma-glutamyltranspeptidase (GGT) values were raised in 23 subjects and a significant correlation was noted between the two measurements (r = 0,51; P less than 0,01). There was, however, no correlation between the initial serum ferritin concentration and the serum alanine transaminase and serum aspartate transaminase concentrations. The serum ferritin and GGT levels were followed serially during a period of abstinence in 9 subjects; values fell in parallel in all of them. The data indicate that a serum ferritin level above 300 micrograms/l is very unlikely to be the result of alcohol-induced liver damage if the serum GGT value is less than 50 U/l. The combined measurement of serum ferritin and GGT values should therefore prove useful in epidemiological studies concerned with defining the prevalence in different population groups of the HLA-linked iron-loading gene that leads to the clinical disorder of idiopathic haemochromatosis.
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PMID:Effects of heavy alcohol consumption on serum ferritin concentrations. 614 24

Heterozygous beta thalassaemia with microcytic anaemia (hemoglobin concentration 77 g/l) has been recognized in a 49 year-old woman of Alsatian extraction. A long history of microcytic anaemia had led to inadequate oral iron treatment before the patient was referred to us because of the persisting microcytic anaemia and iron loading. Indeed the patient also had haemosiderosis with a high transferrin saturation (73%) and markedly elevated ferritinaemia (1,114 micrograms/ml). Ferrokinetic data showed increased plasma iron turnover, early transfer of iron to the liver and evidence of ineffective erythropoiesis. She was treated with desferrioxamine (3 g every three days subcutaneously) and serum ferritin levels gradually decreased together with transferrin saturation. After 15 months serum ferritin and transferrin saturation were within the normal range. Several hypotheses are discussed to explain why this patient had haemosiderosis associated with heterozygous beta thalassaemia. The propositus was found to be HLA-A3, which is strongly associated with idiopathic haemochromatosis. Her sister also carries HLA-A3 with heterozygous beta thalassaemia but she has neither anaemia nor iron overload. Thus double heterozygotism is unlikely in our patient.
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PMID:[Iron overload in a beta thalassemia heterozygote of the intermediate type in a subject of Alsation origin. Results of iron chelation treatment]. 633 73

A number of different observations indicate that cells of the immune system can participate in the prevention of potential tissue toxicity from iron accumulation and that, in turn, iron and iron binding proteins have important effects on immune responses. The current studies were undertaken to examine a specific aspect of the interaction of iron with human peripheral blood mononuclear cells. A modified hemolytic plaque-forming assay was used to measure ferritin secretion in vitro by phytohemagglutinin activated or nonactivated mononuclear cells in response to stimulation by ferric citrate. Cells from 55 unrelated healthy subjects collectively representing all well-defined HLA-A, B, C, and DR antigens were studied. There were large reproducible differences in the numbers of plaques formed by different individuals, and there was a statistically significant increase in the frequency of the HLA determinant A3 among the "low" responders. Ferritin secretion measured with an antibody specific for acidic ferritin also showed a distinction between A3 and non-A3 donors. In preliminary cell mixing studies, ferritin secretion by mononuclear cells was shown to require the presence of monocytes and to be influenced by the secretion characteristics of both the monocyte and the T-cell donor. These results may provide a clue to the mechanism of development of idiopathic hemochromatosis which is an HLA-A-linked autosomal recessive disease associated with the specific HLA antigen HLA-A3.
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PMID:Ferritin secretion by human mononuclear cells: association with HLA phenotype. 634 85

Hemochromatosis is a syndrome which, when fully expressed, is manifested by melanoderma , diabetes mellitus, and liver cirrhosis, with iron overload involving parenchymal and reticuloendothelial cells in many organ systems. This clinical presentation may arise as a consequence of either hereditary or acquired abnormalities of iron overload, although the mechanisms are quite different. In hereditary hemochromatosis (also known as primary, or idiopathic, hemochromatosis), increased intestinal iron absorption leads to excessive accumulations of iron, throughout the body, particularly in parenchymal cells. In secondary forms of iron overload including transfusional hemosiderosis, alcoholic cirrhosis, thalassemia, sideroblastic anemia, and porphyria cutanea tarda, iron accumulates in the reticuloendothelial system initially, but with increasing amounts of total body iron, excessive iron deposits eventually accumulate in parenchymal cells throughout the body producing a picture indistinguishable from hereditary hemochromatosis. In this article, the course, prognosis, and therapy of iron overload will be reviewed in detail. Clinical and experimental data concerning the pathogenesis of the different forms of iron overload will be examined critically. In particular, information relating to possible abnormalities of reticuloendothelial function, intestinal mucosal iron transport, and alterations in serum and tissue isoferritin patterns in hereditary hemochromatosis will be analyzed, and possible directions for future research will be suggested. The mode of inheritance and linkage with the major histocompatibility (HLA) complex will be discussed. Theories on the pathogenesis of tissue damage by excess iron will be evaluated. Methods for measuring the extent of iron overload in clinical practice will be described, including measurements of serum iron, serum ferritin, iron absorption, cobalt excretion, desferrioxamine excretion, liver biopsy and tissue iron determinations, and HLA typing. Finally, unresolved problems in the understanding of the disease process, diagnosis, and therapy will be delineated.
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PMID:Iron overload disorders: natural history, pathogenesis, diagnosis, and therapy. 637 41

There have recently been considerable advances in the understanding of the inheritance of idiopathic haemochromatosis (McKusick 23520). The disorder is determined by a locus closely linked to the HLA loci on the short arm of chromosome 6. There is a recessive mode of transmission. The gene frequency may be as high as 0.05 in some parts of the world. HLA typing makes it possible to identify family members who are homozygous for idiopathic haemochromatosis and measurement of transferrin saturation and serum ferritin concentration will identify those with iron overload. Treatment is by regular phlebotomy. Few advances have been made in the 50 years in the understanding of the abnormality which permits the increased absorption of iron and which causes the iron overload.
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PMID:Iron and haemochromatosis. 641 77

In 48 patients on maintenance haemodialysis (HD), serum ferritin (SF) levels were measured and compared with 'haemochromatosis alleles', (HA), HLA A3, B7 and B14. A positive correlation was found between high SF levels and the presence of HA. When patients who had received 10 or fewer blood transfusions were studied, it was observed that this correlation did not exist, but it was evident, however, in patients who had received more than 10 blood transfusions. After 14 months in which blood transfusions were restricted, no significant difference in SF was observed between HA carriers and the rest. Our findings suggest that repeated blood transfusions can cause high SF in HD patients, especially in those with HLA A3, B7 or B14 antigens. Among our patients, restriction of blood transfusions seems sufficient to decrease high SF levels.
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PMID:Serum ferritin in haemodialysis patients: role of blood transfusions and 'haemochromatosis alleles' HLA A3, B7 and B14. 660 19

The incidence of this mendelian recessive trait is higher than previously estimated. Idiopathic hemochromatosis is associated with certain HLA types. Early diagnosis and institution of a phlebotomy program can produce regression of all manifestations except hepatoma and arthritis. Screening, with determination of transferrin saturation greater than 60 percent, permits diagnosis before signs and symptoms appear. Serum ferritin determination is the best indicator of the course of the disease.
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PMID:Idiopathic hemochromatosis. 663 48


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