Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0162316 (iron deficiency anemia)
 3,806 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The present study was designed to investigate the effects of nickel chloride on dietary iron deficiency in rats. The degree of iron deficiency was relatively moderate, but a more generalized anemia occurred in iron deficiency, in absence of nickel chloride. Moderate iron deficiency anemia induced increased lactate-dehydrogenase activity of serum and bone marrow, perhaps related to the decreased production of energy by oxidative means. Nickel chloride, perhaps for its ability to change iron absorption, for the maintenance of bone marrow metabolism and for to increase ceruloplasmin activity, inhibited the alteration on hemoglobin synthesis. Furthermore, nickel chloride possibly for its action on copper content and Cu-Zn superoxide-dismutase activity, inhibits the shortening of the red cell life span, caused by superoxide radicals.
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PMID:Influence of nickel chloride on iron-deficiency in rats. 263 91

Groups of rats were fed diets providing 8 ppm iron (-Fe) and 250 ppm iron (+Fe) throughout pregnancy and lactation. In spite of the increase in apparent absorption of iron in pregnant -Fe dams, iron deficiency anemia developed, resulting in decreased iron levels in placenta, amniotic fluid and fetal liver. Copper concentration of amniotic fluid was elevated in -Fe dams. On day 17 of lactation, -Fe dams and their suckling pups had hematologic evidence of iron deficiency. While liver and spleen iron decreased in 17-day-old pups, levels of copper increased. Subcellularly, the greatest increase in hepatic copper in -Fe pups was found in the cytosol, thus the increased copper deposition is not similar to copper loading. Serum ceruloplasmin activity was significantly elevated in -Fe lactating dams and was slightly, but not significantly, increased in -Fe pregnant dams and suckling pups.
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PMID:Copper metabolism in iron-deficient maternal and neonatal rats. 669 92

There is little absolute data in the form of prospective studies in patients with specific illnesses who are on oral contraceptives (OCs). Consequently, the clinician must depend on well-founded empiric decisions in prescribing the pill for these patients. The basis for the decision should be a firm understanding of the pathophysiology and laboratory effects of OCs. This needs to be juxtaposed with an understanding of the efficacy and effects of the estrogen and progestational components of the birth control pill and their interactions with maintenance medications. Available evidence is reviewed for the following medical disorders: central nervous system disorders (depression, Wilson's disease, headaches, epilepsy, multiple sclerosis, and the eye); immunologic and connective tissue diseases; diseases of the endocrine system, the gastrointestinal system, the genitourinary system, the memopoietic system; and skin disorders. 7% of women on OCs have increased or newly reported depression. Whether these are primarily psychogenic or metabolically derived is yet to be definitively determined. Wilson's disease can be exacerbated by OCs because of increased plasma ceruloplasmin and increased absorption of copper from the gastrointestinal tract. Headaches can be either a vague or a specific symptom, such as migraines, but 1/3 of these patients will become worse on OCs. There is good evidence that the headaches are caused by falling estrogen levels. There is no good evidence that epilepsy, in general, becomes worse on OCs. OCs have relatively no effect on the longterm prognosis in multiple sclerosis. Increased corneal sensitivity has been observed with OC use, and this has usually presented an intolerance to the use of contact lenses. This is primarily the result of increased edema of the cornea and changing of its contour. By inference, OCs cause some basic universal changes in the immunologic system. OCs have been reported as a cause of a rare form of rheumatoid arthritis, but the Royal College reports a decrease in incidence of cell-mediated immunologic disease, specifically rheumatoid arthritis in its more familiar form. There is no evidence that OCs markedly influence thyroid disease, but they do markedly alter thyroid function testing. OCs do not produce a chronic addisonian state nor do they inhibit the ability of the adrenal-pituitary axis to respond to stress. OCs can be used in thyroid disease but with some caution in hypothyroid states. They should not be used in patients with Cushing's syndrome and are not recommended in patients with adenomas. In general, estrogen works as an irritant to the gastric mucosa, but there is no increase in peptic ulcer diseases associated with OC use, and the incidence of duodenal ulcer disease is decreased. The most striking liver disease seen with OCs is cholelithiasis. The incidence is increased 2-fold. OCs should not be prescribed for patients with chronic renal disease because of the vascular effects as well as the reported increased risk of urinary tract infection. The Royal College report has shown a decreased incidence of iron deficiency anemia in patients on OCs. Various skin changes have been reported in women using OCs. The most common of these is chloasma. In all the diseases studied thus far, the use of OCs has not precipitated a catastrophic change.
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PMID:The use of birth control pills in women with medical disorders. 702 14

A 6-month-old full-term infant had severe anemia and neutropenia. The patient was being fed cow's milk and a diet of corn flour. Thorough investigation revealed low serum iron concentration, severe hypocupremia, low ceruloplasmin, retardation of bone age, and metaphysial irregularities and spurring. Bone marrow aspirate revealed cytoplasmic vacuolization in precursors of the erythroid and myeloid series and ringed sideroblasts. Therapy with oral iron, folic acid, and vitamin C was futile. Administration of copper sulfate resulted in brisk increase in neutrophils and reticulocytes. The child maintained normal levels of hemoglobin, neutrophils, serum copper and ceruloplasmin, and serum iron one year after copper therapy was discontinued. The probable role of unrecognized copper deficiency in causing anemia in infants more than 6 months of age is discussed, and the importance of serum copper examination in refractory iron deficiency anemia and neutropenia is stressed. To the best of our knowledge, no such case has previously been described in the literature.
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PMID:Copper deficiency with cow's milk diet. 727 67

Aceruloplasminemia is an autosomal recessive disorder caused by mutations in the ceruloplasmin (CP) gene, and is characterized by a unique combination of neurovisceral iron overload and iron deficiency anemia. We generated CP-deficient (CP(-/-)) mice to investigate the functional involvement of CP in iron metabolism. The mice showed a marked iron overload in the liver and mild iron deficiency anemia. We examined the expression of iron-metabolism genes in the duodenum and liver using TaqMan RT-PCR. The divalent metal transporter 1 (DMT1), ferroportin 1 (FPN1), and hephaestin (HEPH) genes were not up-regulated in the duodenum from CP(-/-) mice. These data suggest that the mechanism of hepatic iron overload in aceruloplasminemia is quite different from that in hemochromatoses and atransferrinemia. In the liver, CP(-/-) mice showed no increase of gene expression for DMT1 and transferrin receptors (TFR and TFR2), indicating that none of the known pathways of iron uptake is activated in hepatocytes of CP(-/-) mice. This result supports the hypothesis that CP mainly acts to release iron from cells in the liver.
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PMID:Quantitative evaluation of expression of iron-metabolism genes in ceruloplasmin-deficient mice. 1239 73

Hereditary hemochromatosis is characterized by marked variation of expression of the defect: very few homozygotes with the C282Y/C282Y HFE genotype have full-blown clinical disease, a larger number show biochemical stigmata of iron overload, and some seem normal biochemically. The following candidate genes have been examined in detail to determine whether polymorphisms in them may be responsible for this variation: transferrin, transferrin receptor 1, transferrin receptor 2, ferritin-L, ferritin-H, IRP1, IRP2, HFE, beta(2) microglobulin, mobilferrin/calreticulin, ceruloplasmin, ferroportin, NRAMP1, NRAMP2 (DMT1), haptoglobin, heme oxygenase-1, heme oxygenase-2, hepcidin, USF2, ZIRTL, duodenal cytochrome b ferric reductase (DCYTB), TNFalpha, keratin 8, and keratin 18. The coding sequence, exon-intron junctions, and promoters of each of these genes was sequenced in DNA from 20 subjects: 5 HFE C282Y/C282Y with clinical disease, 5 HFE C282Y/C282Y with normal/low ferritin levels and no disease, 5 wt/wt with high ferritin and transferrin saturation, and 5 wt/wt normal controls. When coding or promoter polymorphisms were encountered, DNA from large numbers of ethnically defined subjects was examined for these polymorphisms and a relationship between their existence and abnormalities of iron homeostasis was sought. Only in the case of one transferrin mutation did we find a strong relationship between the polymorphism and iron deficiency anemia. The putative genes that affect the expression of HFE mutations remain elusive.
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PMID:Seeking candidate mutations that affect iron homeostasis. 1254 38

IDA is still the major medico-social problem in pediatric hematology, especially in early childhood. In this correction ferroresistant forms of IDA are interesting. The aim of our investigation was: studying the Efficacy of Tot'hema in the treatment of Iron Deficiency Anemia in Early childhood with concomitant copper deficiency. We observed 42 patients with IDA (age 0,4 - 3 years) in open control investigation. The carried-out investigations revealed that IDA in early childhood is often proceeded by the concomitant copper deficiency and ceruloplasmin, mainly in premature infants and in children with prolonged diarrhea in anamnesis. In such cases it is important to investigate the copper metabolism together with the peripheral blood index and iron metabolism. Tot'hema improves hematologic and biochemical index, completely supplies iron and copper deficiency, prevents of iron resistant form of IDA. Tot'hema has no side effects.
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PMID:[Efficacy of to'thema in the treatment of iron deficiency anemia in early childhood with concomitant copper deficiency]. 1590 30

Copper and iron metabolism intersect in mammals. Copper deficiency simultaneously leads to decreased iron levels in some tissues and iron deficiency anemia, whereas it results in iron overload in other tissues such as the intestine and liver. The copper requirement of the multicopper ferroxidases hephaestin and ceruloplasmin likely explains this link between copper and iron homeostasis in mammals. We investigated the effect of in vivo and in vitro copper deficiency on hephaestin (Heph) expression and activity. C57BL/6J mice were separated into 2 groups on the day of parturition. One group was fed a copper-deficient diet and another was fed a control diet for 6 wk. Copper-deficient mice had significantly lower hephaestin and ceruloplasmin (approximately 50% of controls) ferroxidase activity. Liver hepcidin expression was significantly downregulated by copper deficiency (approximately 60% of controls), and enterocyte mRNA and protein levels of ferroportin1 were increased to 2.5 and 10 times, respectively, relative to controls, by copper deficiency, indicating a systemic iron deficiency in the copper-deficient mice. Interestingly, hephaestin protein levels were significantly decreased to approximately 40% of control, suggesting that decreased enterocyte copper content leads to decreased hephaestin synthesis and/or stability. We also examined the effect of copper deficiency on hephaestin in vitro in the HT29 cell line and found dramatically decreased hephaestin synthesis and activity. Both in vivo and in vitro studies indicate that copper is required for the proper processing and/or stability of hephaestin.
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PMID:Decreased hephaestin activity in the intestine of copper-deficient mice causes systemic iron deficiency. 1661 10

Anemia is defined by a deficiency of hemoglobin, an iron-rich protein that binds oxygen in the blood. It can be due to multiple causes, either acquired or genetic. Alterations of genes involved in iron metabolism may be responsible, usually at a young age, for rare forms of chronic and often severe congenital anemia. These diseases encompass a variety of sideroblastic anemias, characterized by the presence of ring sideroblasts in the bone marrow. Clinical expression of congenital sideroblastic anemia is either monosyndromic (restricted to hematological lineages) or polysyndromic (with systemic expression), depending on whether iron metabolism, and especially heme synthesis, is directly or indirectly affected. Beside sideroblastic anemias, a number of other anemias can develop due to mutations of key proteins acting either on cellular iron transport (such as the DMT1 transporter), plasma iron transport (transferrin), and iron recycling (ceruloplasmin). Contrasting with the aforementioned entities which involve compartmental, and sometimes, systemic iron excess, the iron refractory iron deficiency anemia (IRIDA) corresponds to a usually severe anemia with whole body iron deficiency related to chronic increase of plasma hepcidin, the systemic negative regulator of plasma iron. Once clinically suggested, these diseases are confirmed by genetic testing in specialized laboratories.
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PMID:Rare anemias due to genetic iron metabolism defects. 3011 30