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)

A patient with characteristic features of iron deficiency was unexpectedly found to have circulating siderocytes. Bone marrow iron stain at this time showed absence of both hemosiderin and ringed sideroblasts; electron microscopy revealed absence of mitochondrial iron loading but presence of cytoplasmic ferritin in normoblasts. Replenishment of iron stores led to development of typical sideroblastic anemia. These observations suggest that increased percentage of siderocytes in otherwise typical iron deficiency anemia may signify the presence of a sideroblastic process masked by iron deficiency due to bleeding.
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PMID:Primary sideroblastic anemia masked by bleeding. 7 31

The clinical and laboratory findings in three patients with primary acquired sideroblastic anemia (PASA) are described. The results demonstrate that what seems to be a well defined entity of the large group of sideroblastic anemias, is in itself a heterogeneous subgroup, with differences capable of detection by more extensive studies. Electron microscopic examination of erythroid cell precursors confirmed previously described features such as deposition of large amounts of iron, mainly in the mitochondria. The precipitated serum proteins revealed an increased content of ferritin molecules only in the patients and not in control individuals, suggesting an increased supply of iron to the erythroid precursors. This finding could serve as an additional mechanism for the accumulation of iron in the erythroid precursors, considering also the defect in heme synthesis and increased permeability of the erythroid membrane for iron, described in this condition.
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PMID:Clinical and ultrastructural observations in primary acquired sideroblastic anemia. 13 33

Energy dispersive x-ray microanalysis was used to analyze mitochondrial and lysosomal iron-containing deposits in sideroblastic anemia. Although it has been previously known that these deposits contain iron by inference from Prussian blue staining, the possible presence of other cations as well as the nature of the anions present has not been identified. The results show that the mitochondrial deposits in erythroid cells have peaks for iron and phosphorus indicating that they do not represent calcifications which commonly occur following injury and that the principal anion may be phosphorus. Studies of hemosiderin and ferritin aggregates in lysosomes of macrophages in the same bone marrow samples again reveal similar peaks for iron and phosphorus. The results also indicate the probable similarity of mitochondrial and macrophage deposists although ferritin itself was never identified in the mitochondrial deposits. The results illustrate the potential of this method for diagnostic and investigative pathology.
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PMID:Energy dispersive x-ray microanalysis of mitochondrial deposits in sideroblastic anemia. 70 61

Sideroblastic anemia is an extremely rare disorder in children. This report describes a 9-year 4-month-old girl with severe refractory anemia with ringed sideroblasts (RARS) that progressed to severe bone marrow aplasia. Ultrastructural studies revealed the presence of abundant intramitochondrial deposits of iron in erythroblasts similar to that observed in adults with this disorder. Although acid ferrocyanide staining confirmed the ferric valence of the iron deposits, they lacked morphologic and cytochemical characteristics associated with ferritin and hemosiderin. Bone marrow culture showed decreased or absent CFU-GEMM, CFU-GM, CFU-E, and BFU-E. Erythrocyte uroporphyrinogen I synthase, aminolevulinic acid dehydratase, uroporphyrinogen decarboxylase, urinary porphyrins, porphobilinogen, and aminolevulinic acid were normal. Free red cell protoporphyrin was increased. Therapy with corticosteroid and androgens was totally ineffective. The aplastic bone marrow in this child appeared to represent the end stage of RARS and differed from adults with RARS, who more frequently demonstrate a chronic course, often with the onset of leukemia as a terminal sequela. Although this case documents the occurrence of RARS in a child, additional reports of children with this disorder will be required to determine the prognosis and natural history of RARS in children.
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PMID:Severe refractory anemia with ringed sideroblasts and bone marrow aplasia in a child. 155 Feb 66

Microcytic anemia is defined as the presence of small, often hypochromic, red blood cells in a peripheral blood smear and is usually characterized by a low MCV (less than 83 micron 3). Iron deficiency is the most common cause of microcytic anemia. The absence of iron stores in the bone marrow remains the most definitive test for differentiating iron deficiency from the other microcytic states, ie, anemia of chronic disease, thalassemia, and sideroblastic anemia. However, measurement of serum ferritin, iron concentration, transferrin saturation and iron-binding capacity, and, more recently, serum transferrin receptors may obviate proceeding to bone marrow evaluation. The human body maintains iron homeostasis by recycling the majority of its stores. Disruptions in this balance are commonly seen during menstruation, pregnancy, and gastrointestinal bleeding. Although the iron-absorptive capacity is able to increase upon feedback regarding total body iron stores or erythropoietic activity, this physiologic response is minimal. Significant iron loss requires replacement with iron supplements. The vast majority of patients respond effectively to inexpensive and usually well-tolerated oral iron preparations. In the rare circumstances of malabsorption, losses exceeding maximal oral replacement, or true intolerance, parenteral iron dextran is effective. In either form of treatment, it is necessary to replete iron stores in addition to correcting the anemia.
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PMID:Microcytic anemia. Differential diagnosis and management of iron deficiency anemia. 157 56

Idiopathic hemochromatosis is a hereditary disease that is associated with human leucocytic antigens A3, B7, and B14. A genetic association between human leucocytic antigen-linked hemochromatosis and idiopathic refractory sideroblastic anemia has been suggested that may predispose some patients with idiopathic refractory sideroblastic anemia to develop gross iron overload. Study of the family of a patient with idiopathic refractory sideroblastic anemia and hemochromatosis revealed that 2 of 5 first-degree relatives had significant elevations of serum ferritin, and a shared human leucocytic antigen haplotype, supporting the concept that patients with idiopathic refractory sideroblastic anemia and significant iron overload have at least one allele for hemochromatosis.
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PMID:Iron overload complicating sideroblastic anemia--is the gene for hemochromatosis responsible? 292 65

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

In the present study, we tried to detect ferritin-secreting cells (FSC) as plaque-forming cells using a reverse hemolytic plaque assay and thereby to evaluate some of the cellular aspects of ferritin dynamics associated with various hematological disorders. Healthy adult males had 433 FSC and adult females had 244 FSC in 1 X 10(5) peripheral blood mononuclear cells (PBM). The mean numbers of FSC in 1 X 10(5) lymphocyte-enriched fraction were 120 in males and 53 in females, and those in 1 X 10(5) monocyte-enriched fraction were 932 in males and 668 in females. These results indicate that monocytes contain about 8-13 times as many FSC as lymphocytes. Each fraction of PBM from patients with iron deficiency anemia contains only about half as many FSC as those of normal individuals. Whereas, in states of increased iron storage such as seen in sideroblastic anemia, aplastic anemia and myelofibrosis, the mean numbers of FSC are markedly increased to about 4-8 times in PBM, about 11-20 times in lymphocytes and about 3-7 times in monocytes, compared with each counterpart of the normal individuals.
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PMID:Enumeration of circulating ferritin-secreting cells by a reverse hemolytic plaque assay. 641 24

Basic ferritin content of red cells has been evaluated with a simplified assay in subjects with various erythroid disorders. In 39 patients with iron deficiency anemia, red cell ferritin was significantly reduced compared with that of normal individuals. Thirty percent of these patients had low normal red cell ferritin content and the MCV for this group was significantly higher than that of patients with reduced red cell ferritin. The mean red cell ferritin of 30 subjects with the anemia of chronic disease was significantly reduced and patients in this group with normal red cell ferritin had higher plasma ferritin levels. In 14 patients with polycythemia vera, the mean red cell ferritin was significantly reduced and showed a positive correlation with the hemoglobin level and percent transferrin saturation. The red cell ferritin content of 9 individuals with acquired immune hemolytic anemia and 10 with acquired sideroblastic anemia was significantly elevated and, in subjects with immune hemolysis, showed a positive correlation with the reticulocyte count. These findings suggest a lack of discriminatory function for red cell ferritin in iron deficiency anemia and anemia of chronic disease. Evaluation of this parameter in the individual patient should take into account the presence of reticulocytosis.
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PMID:Basic ferritin content of red cells of patients with anemia and polycythemia vera. 652 7

In a child with sideroblastic anemia complicated with hemochromatosis, iron overload was successfully treated with slow subcutaneous perfusion of deferoxamine. A 28 month-treatment resulted in the inversion of iron balance, which became negative, and the normalization of serum ferritin and abdominal CT scan. These results indicate that deferoxamine perfusion 12/24 hrs is able to restrict or even to remove the iron overload, previously responsible for hemochromatosis, a factor of mortality in this disease.
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PMID:[Iron chelate treatment of hereditary sideroblastic anemia complicated by hemochromatosis]. 662 46


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