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)

The isoferritin composition of serum ferritin in 13 patients with untreated idiopathic haemochromatosis (IHC) has been shown to differ from normal in exhibiting an increase in isoferritins in the pH range 5.54-5.62. A similar change was observed in four patients with gross iron overload secondary to haemolytic anaemia. During the course of venesection therapy there was a progressive rise in isoferritins of pI 5.02-5.06 relative to the more basic isoferritins. These observations are consistent with previous studies showing alterations in tissue isoferritins in untreated IHC before and after venesection therapy and they are compatible with the hypothesis that the more basic isoferritins correspond to a 'storage' ferritin and the more acidic to a 'secretory' ferritin. The studies also provide further evidence for a possible biological role of the individual isoferritins.
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PMID:Serum ferritin in haemochromatosis: changes in the isoferritin composition during venesection therapy. 1 30

To determine the frequency of HLA histocompatibility antigens in persons with idiopathic hemochromatosis and their usefulness as genetic markers of the disease, HLA typing for the A, B and C loci was carried out. HLA-A3 was found in 61% of 18 unrelated individuals with idiopathic hemochromatosis compared with 25% of 253 randomly chosen control subjects (P less than 0.001), and HLA-B7 was found in 50% and 22% respectively (P less than 0.025). Eighty-six members of seven families with idiopathic hemochromatosis were screened for abnormalities in iron metabolism with tests for serum iron concentration, transferrin saturation, serum ferritin concentration and iron content of the hepatocytes. Of the 14 persons selected for liver biopsy because of abnormalities detected by these tests, 8 had increased amounts of stainable iron in the hepatocytes. Body iron overload was subsequently demonstrated in six of the seven, who had undergone repeated phlebotomy. In sibships having one member with hemochromatosis, only 1 of 22 members had two haplotypes in common with the proband, whereas in sibships having more than 1 member with the disease 4 of 5 affected members had two haplotypes in common. HLA typing in families with hemochromatosis may provide a means of identifying persons at risk of acquiring the disease.
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PMID:Histocompatibility antigens as markers of abnormal iron metabolism in idiopathic hemochromatosis. 8 5

Subcutaneous desferrioxamine (2--4 g over 12 h) was administered 6 nights each week to 34 patients with transfusional iron overloads who continued to receive regular blood-transfusions. All 34 patients showed a fall in serum-ferritin after 5 to 12 months. In some patients serum-ferritin fell almost to normal. Liver function improved in all the patients, serum-aspartate-transaminase levels fell in all 17 patients tested, and liver-iron fell in 5 of 6 patients tested. These studies show that body-iron stores can be substantially reduced, to normal or near normal levels, by long-term subcutaneous desferrioxamine in patients with transfusional iron overload despite the need for continued blood-transfusion. They also show that removal of iron is accompanied by improved organ function.
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PMID:Improvement in iron status and liver function in patients with transfusional iron overload with long-term subcutaneous desferrioxamine. 8 16

The auditory function of 75 children affected by homozygous beta0-thalassemia, managed with a low transfusion scheme and treated irregularly with low doses of desferrioxamine, and of 75 controls were examined. In 12 patients a mild bilateral conductive hearing impairment due to bony hypertrophy and/or adenoid hypertrophy was found. In 43 cases a moderate monolateral or bilateral sensory-neural hearing loss at high frequencies with recruitment phenomenon was observed. Ferritin levels were determined in a randomly chosen group of these patients with (14) and without heaing loss (11). In the subjects with sensory-neural hearing loss the mean ferritin levels were significantly higher than in those with no hearing defect. There was no obvious relation between sensory-neural damage on the one hand and Hb levels and unit of blood transfused on the other. The results of this study suggest that iron overload could be a cause of damage in the high frequency elements of the auditory mechanism. Intermittent hypoxia and slow 8th nerve compression due to bony hypertrophy as causes of auditory involvement are also discussed.
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PMID:Auditory involvement in thalassemia major. 10 1

Ethylene diamine tetra-acetic acid-induced hypocalcemia was used as provocative test of parathyroid reserve in eight normocalcemic patients with thalassemia major (age 8 to 26 years) and five young adult control subjects (age 22 to 35). In response to an intravenous infusion of disodium EDTA (50 mg/kg), serum immunoreactive parathyroid hormone rose by 1.97 +/- 1.93 (SD) microliterEq/ml in the patients, controls showing a rise of 10.6 +/- 3.6 microliterEq/ml (t = 5.46, P less than 0.001). There was no relationship between parathyroid response and total iron burden as measured by serum ferritin- or desferrioxamine-induced urinary iron excretion. Impairment of parathyroid reserve is common in transfused patients with thalassemia major and may serve as a marker of significant iron overload.
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PMID:Impaired parathyroid response to induced hypocalcemia in thalassemia major. 10 97

Serum ferritin (SF) is elevated in adults with malignancies, chronic inflammatory disease, liver disease and iron overload. The purpose of this study was to determine whether the concentration of SF in children with a variety of malignancies correlated with the activity of their disease. Patients with acute lymphoblastic leukaemia (ALL) at initial diagnosis (n = 11) and relapse (n = 15) had a mean SF of 238 and 338 ng/ml, respectively, compared to the normal mean of 31 ng/ml and range of 7 to 140 ng/ml in children. In 30 patients with ALL in remission the mean SF was 109 ng/ml, less than the values in patients with active disease and greater than the normal mean (P less than 0.001). The concentration of SF was also increased in a group of 77 patients with a variety of solid tumors. The 28 cases with active disease had a mean SF of 242 ng/ml, significantly higher (P less than 0.001) that the value of 84 ng/ml in 49 patients with no evidence of residual tumor. The differences in SF concentration did reflect the activity of disease in the groups as a whole but it remains uncertain whether the assay will prove useful in following the response to treatment of patients with certain types of tumor.
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PMID:Elevated serum ferritin in children with malignancies. 19 90

On account of its easy access in aqueous solution to the two states ferrous (FeII) and ferric (FeIII), iron is ideally suited for the activation of molecular oxygen. It is, therefore, logical to seek links between the normal and pathological metabolism of iron and oxygen activation. The pathways of intracellular iron metabolism require changes in the oxidation state of iron both in its deposition in the storage form, ferritin, and in its mobilization from the storage form and use in the cell. Evidence is presented which shows that iron oxidation and deposition in ferritin involves activation of molecular oxygen with formation of a stable peroxo-complex as an intermediate in which the oxygen is bound between two iron atoms attached to adjacent polypeptide chains. The release of iron from ferritin is thought to involve reduction by a flavin, which is associated with the protein, and serves as a cofactor being alternately reduced by NADH or NADPH and oxidized by iron(III). The nature of the low-molecular-weight iron complex which serves to transfer storage iron to transferrin and to supply iron for intracellular use remains to be established. The consequence of excessive iron overload can be rationalized on the basis of oxidative free-radical reactions which provoke lesions typical of deregulated oxygen activation. In some cases these pathological defects can be reversed by iron chelators. Progress in the development of chelation therapy for iron overload are reviewed.
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PMID:Interactions between iron metabolism and oxygen activation. 25 65

Aim of the study was the evaluation of the diagnostic value of the parameters of iron metabolism in normal adults and also in patients suffering from uncomplicated iron deficiency, iron overload due to repeated blood transfusions, malignant lymphoma and Crohn's disease. In these patients, the determination of serum ferritin increased the diagnostic efficiency only in poly-transfused patients with iron overload.
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PMID:[Serum ferritin and its diagnostic significance in iron metabolism disorders]. 29 34

Over the last few years the study of idiopathic haemochromatosis has not brought to light any basic change in the overall pattern of organic and metabolic damage produced by the disease and comprising altered skin pigmentation, liver disease, diabete mellitus, heart disease, endocrine dysfunction, bone and joint disease. Nevertheless, certain facets of the clinical picture have been described and progress has been made in understanding the signs of the disease. Although the desferrioxamine test is no without merit, especially if performed after vitamin C administration, for measuring the extent of iron overload, two methods seem better equipped: serum ferritin radioimmunoassay and measurement of iron concentration in a liver biopsy specimen. The HLA antigen A3 and, more especially, haplotype A3, B14, are markers for the genetic basis of the disease. Repeated phlebotomy therapy generally brings about symptomatic improvement and a significant increase in survival.
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PMID:[Idiopathic haemochromatosis. I. Clinical, biological and therapeutic aspects (author's transl)]. 37 16

(1) Brief introduction to iron metabolism and the biochemistry of ferritin. (2) Early studies of circulating ferritin. (3) Methods for measuring serum ferritin concentrations -- immunoradiometric, radioimmuno- and enzyme-linked immuno assays based on liver or spleen ferritin -- an evaluation of these techniques. (4) Serum ferritin concentrations in normal subjects -- definition of normality -- relationship between storage iron and serum ferritin concentrations -- changes during development from birth to old age -- iron deficiency -- variability of serum ferritin concentration -- evaluation of use of ferritin assay for assessment of storage iron levels. (5) Serum ferritin concentrations in disease -- hemochromatosis -- secondary iron overload -- liver damage -- infection and chronic disease -- cancer. (6) Assay of serum ferritin with antibodies to ferritins other than liver or spleen -- ferritinemia and cancer. (7) Properties of serum ferritin -- molecular weight -- iron content -- isoelectric focusing patterns -- carbohydrate content -- immunological properties. (8) Physiology of circulating ferritin -- release of ferritin from tissues -- origin of circulating ferritin -- clearance from the plasma -- iron and protein turnover. (9) Summary -- factors influencing serum ferritin concentrations and clinical use of ferritin estimations.
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PMID:Serum ferritin. 37 39


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