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Query: UMLS:C0162316 (iron deficiency anemia)
 3,806 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

This study evaluates the diagnostic reliability of 11 red blood cells indices, together with our new index, referred to as '11T', in differentiation of beta-thalassemia minor (BTm) from iron deficiency anemia (IDA). A total of 129 patients with microcytic anemia were involved in a retrospective study, 80 with IDA and 49 with BTm. Using an automatic program, we calculated 11 discrimination indices and a new score, 11T, based on the results of these 11 tests. To confirm the interest of 11T, we performed a prospective study with 53 patients. 11T was most effective in differentiating BTm from IDA: 11T had the highest Youden's index (83%) and the best percentage of correctly identified patients (93%) and gave optimal performance in our prospective study. We proposed a score, 11T, which is able to discriminate between IDA and BTm with high specificity and high sensitivity in order to conduct the appropriate confirmatory examination.
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PMID:Proposal of a score combining red blood cell indices for early differentiation of beta-thalassemia minor from iron deficiency anemia. 2141 45

Iron-refractory iron deficiency anemia (IRIDA) is a rare hereditary form of IDA with autosomal recessive inheritance. IRIDA is characterized by hypochromic microcytic anemia unresponsive to oral iron treatment, low transferrin saturation, and a high level of iron-regulated hormone hepcidin. The genetic background of IRIDA is mutations in the TMPRSS6 gene encoding matriptase-2 (TMPRSS6) that prevent inactivation of hemojuvelin, an activator of hepcidin transcription. We herein report a Korean female with IRIDA who was compound heterozygous for two mutations in TMPRSS6: a novel missense mutation c.1807G>C (p.Gly603Arg) in the serine protease domain and a known splicing mutation c.863+1G>T (IVS6+1G>T).
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PMID:A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia. 2161 15

Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal-recessive disorder hallmarked by hypochromic microcytic anemia, low transferrin saturation, and unresponsiveness to oral iron with partial recovery after parenteral iron administration. The disease is caused by mutations in TMPRSS6 (transmembrane protease serine 6) that prevent inactivation of membrane-bound hemojuvelin, an activator of hepcidin transcription. To date, 38 cases have been characterized and reported in European countries and the United States. In this paper, we describe the first case of a Japanese female with IRIDA, who carried a novel mutation (K253E) in the CUB (complement factor C1r/C1s, urchin embryonic growth factor and bone morphogenetic protein 1) domain of the TMPRSS6 gene.
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PMID:Novel missense mutation in the TMPRSS6 gene in a Japanese female with iron-refractory iron deficiency anemia. 2164 93

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

Mutations in TMPRSS6 gene cause iron-refractory iron deficiency anemia, a rare autosomal recessive disorder characterized by hypochromic microcytic anemia not responsive to oral iron therapy and partially responsive to parenteral iron administration. Here we report a female infant homozygous for a loss of function mutation in TMPRSS6 gene, who responded to oral iron therapy when supplemented with ascorbic acid.
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PMID:Responsiveness to oral iron and ascorbic acid in a patient with IRIDA. 2216 18

Red cell distribution width (RDW) is an automated laboratory determination of red cell anisocytosis. The aim of the study was to analyse the role of RDW in differentiating iron deficiency anaemia (IDA) from thalassaemia trait. There were 500 patients who were screened for the study. Selection criteria of microcytic anaemia were Hb < 13 g/dl in males, Hb < 12 g/dl in females with mean corpuscular volume (MCV) < 80fl. These cases were subjected to complete iron profile and haemoglobin chromatography for definite diagnosis. The values of RDW were analysed in all these cases to see the utility of RDW in classifying microcytic anaemia; especially differentiating iron deficiency anaemia from thalassaemia minor cases. There were 133 out of 500 cases anaemic; 105/133 cases had microcytic anaemia, of which 53 had iron deficiency anaemia, 39 were thalassaemia traits, 6 were thalassaemia major, and 7 had other haemoglobinopathies. Thirty-six cases (67.92%) out of 53 iron deficiency anaemia had increased RDW, 32.08% (n = 17) had normal RDW; 71.79% (n = 28) of thalassaemia trait had increased RDW, 28.21% (n =11) had normal RDW. Evaluation of RDW as screening test to detect microcytic anaemia had sensitivity of 71.42% and specificity of 40%, Evaluation of RDW as a screening test for IDA had sensitivity of 67.9% and specificity 25%. It was found uniform increase in RDW in all cases of microcytosis. It is concluded that RDW adds useful but limited information in classifying microcytic anaemia.
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PMID:Role of red cell distribution width in classifying microcytic hypochromic anaemia. 2218 59

Iron-refractory iron-deficiency anemia (IRIDA) is an autosomal recessive disorder caused by mutations in TMPRSS6. Patients have hypochromic microcytic anemia refractory to oral iron and are only partially responsive to parenteral iron administration. We report a French-Canadian kindred in which 2 siblings presented in early childhood with severe microcytic anemia, hypoferremia, and hyperferritinemia. Both children have been successfully treated solely with low-dose oral iron since diagnosis. Clinical and biological presentation did not fit any previously described genetic iron-deficiency anemia. Whole exome sequencing identified in both patients compound heterozygous mutations of TMPRSS6 leading to p.G442R and p.E522K, 2 mutations previously reported to cause classic IRIDA, and no additional mutations in known iron-regulatory genes. Thus, the phenotype associated with the unique combination of mutations uncovered in both patients expands the spectrum of disease associated with TMPRSS6 mutations to include iron deficiency anemia that is accompanied by hyperferritinemia at initial presentation and is responsive to continued oral iron therapy. Our results have implications for genetic testing in early childhood iron deficiency anemia. Importantly, they emphasize that whole exome sequencing can be used as a diagnostic tool and greatly facilitate the elucidation of the genetic basis of unusual clinical presentations, including hypomorphic mutations or compound heterozygosity leading to different phenotypes in known Mendelian diseases.
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PMID:Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy. 2331 30

We report the case of an 82-year-old patient, hospitalized for malaise. Her clothes were infested by numerous insects and the entomological analysis identified them as being Cimex lectularius (bed bugs). The history of the patient highlighted severe cognitive impairment. The biological assessment initially showed a profound microcytic, aregenerative, iron deficiency anemia. A vitamin B12 deficiency due to pernicious anemia (positive intrinsic factor antibodies) was also highlighted, but this was not enough to explain the anemia without macrocytosis. Laboratory tests, endoscopy and a CT scan eliminated a tumor etiology responsible for occult bleeding. The patient had a mild itchy rash which was linked to the massive colonization by the bed bugs. The C. lectularius bite is most often considered benign because it is not a vector of infectious agents. Far from trivial, a massive human colonization by bed bugs may cause such a hematic depletion that severe microcytic anemia may result.
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PMID:Bed bugs reproductive life cycle in the clothes of a patient suffering from Alzheimer's disease results in iron deficiency anemia. 2367 15

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


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