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)

In mammals, two homologous cytosolic regulatory proteins, iron regulatory protein 1 (also known as IRP1 and Aco1) and iron regulatory protein 2 (also known as IRP2 and Ireb2), sense cytosolic iron levels and posttranscriptionally regulate iron metabolism genes, including transferrin receptor 1 (TfR1) and ferritin H and L subunits, by binding to iron-responsive elements (IREs) within target transcripts. Mice that lack IRP2 develop microcytic anemia and neurodegeneration associated with functional cellular iron depletion caused by low TfR1 and high ferritin expression. IRP1 knockout (IRP1(-/-)) animals do not significantly misregulate iron metabolism, partly because IRP1 is an iron-sulfur protein that functions mainly as a cytosolic aconitase in mammalian tissues and IRP2 activity increases to compensate for loss of the IRE binding form of IRP1. The neurodegenerative disease of IRP2(-/-) animals progresses slowly as the animals age. In this study, we fed IRP2(-/-) mice a diet supplemented with a stable nitroxide, Tempol, and showed that the progression of neuromuscular impairment was markedly attenuated. In cell lines derived from IRP2(-/-) animals, and in the cerebellum, brainstem, and forebrain of animals maintained on the Tempol diet, IRP1 was converted from a cytosolic aconitase to an IRE binding protein that stabilized the TfR1 transcript and repressed ferritin synthesis. We suggest that Tempol protected IRP2(-/-) mice by disassembling the cytosolic iron-sulfur cluster of IRP1 and activating IRE binding activity, which stabilized the TfR1 transcript, repressed ferritin synthesis, and partially restored normal cellular iron homeostasis in the brain.
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PMID:Tempol-mediated activation of latent iron regulatory protein activity prevents symptoms of neurodegenerative disease in IRP2 knockout mice. 1868 2

Congenital atransferrinemia or hypotransferrinemia is a very rare autosomal recessive disorder, characterized by a deficiency of transferrin, resulting in hypochromic, microcytic anemia and hemosiderosis. The authors describe a 10-year-old Iranian girl with hypochromic microcytic anemia. The age presentation of anemia was 3 months. Further evaluations indicate severe hypochromic microcytic anemia with decreased serum levels of iron, TIBC, and increased serum level of ferritin in this patient. The serum level of transferrin was decreased. The diagnosis of atransferrinemia was confirmed. Although atransferrinemia is a rare condition, it should be considered in the cases with hypochromic microcytic anemia, decreased serum levels of iron, TIBC, and increased serum level of ferritin.
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PMID:Severe hypochromic microcytic anemia in a patient with congenital atransferrinemia. 1957 82

Divalent metal transporter 1 (DMT1) is the protein that allows elemental iron entry into the duodenal cell. It is expressed ubiquitously and it also allows the iron exit from the endosomes. This protein plays a central role in iron metabolism and it is strictly regulated. Several animal models elucidate its role in physiology. Recently three patients affected with DMT1 deficiency have been described. This recessively inherited condition appears at birth with severe microcytic anemia. Serum markers could be particularly useful to establish a correct diagnosis: high serum iron, normal total iron-binding capacity (TIBC), increased saturation of transferrin (Tf), slightly elevated ferritin, and increased soluble transferrin receptor (sTfR). Increased free erythrocyte protoporphyrins (FEPs) could address the diagnosis to iron-deficient anemia. All patients appeared to respond to erythropoietin (Epo) administration. Because mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) did not change during Epo treatment, it was concluded that Epo did not improve iron utilization of the erythroblasts but likely reduced the degree or intensity of apoptosis, affecting erythropoiesis. Moreover liver iron overload was present and documented in all of the affected patients. In this review we analyze the role of DMT1 in iron metabolism and the major causes of reduction and their consequences in animal models as well in humans, and we attempt to define the correct treatment for human mutants.
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PMID:Mutations in the gene encoding DMT1: clinical presentation and treatment. 1978 4

We evaluated the usefulness of RET-Y and RBC-Y in distinguishing functional iron deficiency from iron-deficiency anaemia (IDA) in patients with anaemia of inflammation (AI). Sixty healthy blood donors constituted the control group. We studied RET-Y and RBC-Y in 115 patients with hypochromic/microcytic anaemia. Of these 42 patients had uncomplicated IDA and 73 had AI. The AI patients were further subdivided into AI with IDA and AI with functional IDA based on soluble transferrin receptor (sTfR) levels. The mean RBC-Y and RET-Y values in iron-deficient patients were 122.4 and 119.8, respectively, which were significantly lower than the control (P < 0.001). The mean level of RET-Y in patients with AI associated with IDA was 149.3 and this level in AI patients with functional iron deficiency was 147.4. RET-Y levels in both subgroups of AI patients were significantly lower than control but no significant difference was observed between the two subgroups. Similar findings were observed for RBC-Y. Receiver operating characteristic analysis also showed lower specificity for RBC-Y and RET-Y compared with that of sTfR and its log ferritin ratio (F-index). RET-Y and RBC-Y are useful in the diagnosis of simple IDA but have limited utility in the diagnosis of IDA with AI.
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PMID:RET-Y and RBC-Y in the diagnosis of iron deficiency associated with anaemia of inflammation. 2010 66

Sideroblastic anemia is a rare cause of microcytic hypochromic anemia. In Bangladesh, most common causes of microcytic anemia are iron deficiency anemia, anemia of chronic diseases and thalassemia. Serum ferritin is usually done to differentiate them. If serum ferritin is low, the diagnosis of iron deficiency is entertained. When serum ferritin is raised but erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) are normal - anemia of chronic disease is excluded. The next investigation is Hb-electrophoresis. Normal Hb-electroporesis excludes thalassemia. Then bone marrow examination with iron stain is done for the diagnosis of sideroblastic anemia. Here we report a case of a 14 year old girl presenting with intermittent leg pain and anemia. Her blood flim showed microcytic hypochromic anemia with raised serum ferritin and normal Hb-electroporesis. Initially she was labeled as a case of unusual type of thalassemia and treated with blood transfusion. Finally bone marrow examination with iron stain was done and she was diagnosed as a case of congenital sideroblastic anemia. We reviewed the literature and discussed the management as well.
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PMID:Congenital sideroblastic anemia treated as thalassemia major. 2095 13

A 52-year-old Japanese woman being treated for type 1 diabetes showed forgetfulness and microcytic anemia with a high serum ferritin concentration. Serum and brain radiological examinations revealed aceruloplasminemia, which was confirmed by genetic testing. Aceruloplasminemia is characterized by the triad of retinal degeneration, diabetes mellitus, and adult-onset disorder of the extrapyramidal system. Though physicians should treat such patients earlier, it is difficult to diagnose the disease before the presentation of neurological symptoms. Despite the presence of microcytic anemia, aceruloplasminemia patients usually have a high serum ferritin concentration due to the complete absence of ceruloplasmin ferroxidase activity. Thus, physicians should consider aceruloplasminemia when diabetic patients present with microcytic anemia and a high serum ferritin concentration.
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PMID:Criteria for early identification of aceruloplasminemia. 2172 62

Iron deficiency anemia as a hematologic complication of the antithyroid medication (ATS) that has not been already described in the literature. We report on two exceptional cases: the first case concerns a 24 years old man admitted for an anemic syndrome. He was treated with carbimazole for Graves' disease. The blood count showed a non-regenerative microcytic anemia. Serum ferritin was severely decreased. The etiologic searching for bleeding, hemolysis, malabsorption or iron deficiency was negative. Treatment with iron salts was introduced without any real improvement. Given this situation, and given the negativity of the etiologic investigations, the decision to stop carbimazole was taken. Since that, the clinical and biological evolutions have been favorable. The second observation is much more original and concerns a 35 years old woman. The clinical, laboratory, etiological and treatment data are similar to those of the first observation. The evolution after withdrawal of carbimazole was favorable. The originality of this observation is that a reintroduction test of carbimazole was performed and allowed to reproduce the same haematological effects. These findings led us to hold the diagnosis of anaemia due to carbimazole. In this occasion, and in the light of the data in the literature, we underline the exceptional character of these two cases and we raise the possibility of an etiopathogenic link between administration of ATS and the occurrence of anaemia by iron deficiency.
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PMID:[Carbimazole can be the cause of iron deficiency anemia?]. 2211 33

A 28-year-old female vegetarian was referred to a specialist in internal medicine with persistent iron deficiency. Laboratory analysis revealed microcytic anaemia with low ferritin levels but normal total vitamin B12 levels. The red blood cell distribution width, however, showed a very wide variation in red blood cell sizes, indicating a coexisting vitamin B12 deficiency, which was confirmed by the low concentration of active vitamin B12. Another patient, a 69-year-old woman with a history of previous gastric surgery and renal insufficiency as a complication of diabetes mellitus, was suspected to be deficient in vitamin B12, as she had low total vitamin B12 levels and an accumulation of methylmalonic acid and homocysteine in her blood. Testing the total concentration of vitamin B12 alone has insufficient diagnostic accuracy and no accepted gold standard is available for diagnosing vitamin B12 deficiency. With the development of newer tests, such as measuring holotranscobalamin II (concentration of active vitamin B12), atypical and subclinical deficiency states can be recognized. A new approach to diagnosing vitamin B12 deficiency is presented, based upon these 2 case descriptions.
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PMID:[Approaches to vitamin B12 deficiency]. 2221 4

The present cross-sectional study was conducted in the Department of Medicine, Mymensingh Medical College Hospital, Mymensingh from December 2009 to November 2010 to find out the association of iron deficiency, in anaemia with rheumatoid arthritis and to find a sensitive and less invasive marker to differentiate iron deficiency anaemia from the anaemia of chronic disease. A total of 45 patients of rheumatoid arthritis were provisionally included in the study. Of them, 12 patients were excluded as they did not allow for aspirating the bone marrow, leaving 33 patients to complete the study. The mean age of the patients was 42.6 years (22-66 years) with female to male ratio being roughly 3:1. Majority (97%) of the patients presented weakness followed by 78.8% dizziness, 54.5% palpitation, 24.2% pallor, 12.1% breathlessness, another 12.1% smooth tongue and 6.1% nail change. About 79% of the patients were positive for RA test and nearly 70% of patient had moderate anaemia. The mean serum ferritin was significantly reduced in patients with hypochromic with or without microcytic anaemia than that with normocytic normochromic anaemia (p<0.001). While total iron binding capacity was found to be significantly increased in patients with iron deficiency anaemia than that in patients with anaemia of chronic disease (p<0.021). The serum iron level was considerably reduced in the former group than that in the later group (p<0.066). Bone marrow iron grading revealed 48.5% of the patients with iron depleted and 51.5% with iron repleted. Serum ferritin level of patients with iron depleted bone marrow was significantly decreased than that in patients with iron repleted bone marrow (p<0.001). Serum iron level of the former group was also reduced than that of the later group (p<0.133). Total iron binding capacity was significantly raised in patients with iron depleted group than that in patients with iron repleted group (p<0.001). The study finds that anaemia of chronic disease and iron deficiency anaemia frequently coexist in patients with rheumatoid arthritis and serum ferritin and total iron binding capacity are considered good indicator for differentiating iron deficiency anaemia from the anaemia of chronic disease. Serum iron levels will not help for differentiating.
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PMID:Assessment of anaemia in patients with rheumatoid arthritis. 2371 44

The aim of the study was to estimate dynamics of hematological disturbances in autoimmune thyroiditis and subclinical hypothyroidism (SH) during substitution therapy and without it and to elucidate factors promoting successful correction. The control group included 36 women, 60 others had SH. They were matched for age, BMI, free T3 level but differed in TSH (1.8 +/- 0.81 vs 7.0 +/- 3.41 mcunits/ml, p < 0.001) and T4 (p < 0.001) levels. 53 women with SH were followed up for 1 year; 18 of them were not treated (subgroup A) while 35 were given levothyroxin (subgroup B). The following red blood parameters were measured hemoglobin (Hb), ferritin, mean erythrocyte volume, erythrocyte Hb content and concentration, blood iron (Fe) level. SH was characterized by decreased (compared with control) Hb levels (125.8 +/- 13.75 and 133.2 +/- 9.12 g/l, p = 0.005), erythrocyte volume (p = 0.022), Hb content per erythrocyte (p = 0.001), ferritin (24.6 +/- 20.56 vs 36.6 +/- 30.66 mcg/l, p = 0.02), and Fe (p = 0.001). The frequency of anemia (28.3 vs 11.1%, p = 0.039) especially microcytic anemia (p = 0.035) increased A year later women of subgroup A showed further decrease in ferritin level (p = 0.011) and increase in anemia frequency (p = 0.016): microcytic (p = 0.23) and normocytic (p = 0.015). In subgroup B, the frequency of anemia decreased (p = 0.001) while ferritin, Fe and Hb levels slightly increased (p > 0.05). The best effect of therapy and highest rise in ferritin level were documented in younger patients (p = 0.06), in the absence of obesity (p = 0.003) and at the low initial ferritin level (p < 0.001). In regression analysis, ferritin level (094 [0.89; 0.99], p = 0.035) proved the most significant predictor of therapeutic effectiveness. SH was characterized by Fe deficiency, tendency to microcytosis and anemia that progressed in the absence of therapy. Substitution therapy promotes normalization of hematological problems especially in young and non-obese patients. Sideropenic syndrome suggests potential benefits of levothyroxin therapy and may be regarded as an additional indication for its prescription.
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PMID:[Hematological disturbances in subclinical hypothyroidism and their dynamics during substitution therapy]. 2443 52


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