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[PMID]:28466468
[Au] Autor:Brown FC; Collett M; Tremblay CS; Rank G; De Camilli P; Booth CJ; Bitoun M; Robinson PJ; Kile BT; Jane SM; Curtis DJ
[Ad] Endereço:Australian Centre for Blood Diseases, Central Clinical School, Monash University and Alfred Health, Melbourne, Vic., Australia.
[Ti] Título:Loss of Dynamin 2 GTPase function results in microcytic anaemia.
[So] Source:Br J Haematol;178(4):616-628, 2017 08.
[Is] ISSN:1365-2141
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:In a dominant mouse ethylnitrosurea mutagenesis screen for genes regulating erythropoiesis, we identified a pedigree with a novel microcytic hypochromia caused by a V235G missense mutation in Dynamin 2 (Dnm2). Mutations in Dnm2, a GTPase, are highly disease-specific and have been implicated in four forms of human diseases: centronuclear myopathy, Charcot-Marie Tooth neuropathy and, more recently, T-cell leukaemia and Hereditary Spastic Paraplegia, but red cell abnormalities have not been reported to date. The V235G mutation lies within a crucial GTP nucleotide-binding pocket of Dnm2, and resulted in defective GTPase activity and incompatibility with life in the homozygous state. Dnm2 is an essential mediator of clathrin-mediated endocytosis, which is required for the uptake of transferrin (Tf) into red cells for incorporation of haem. Accordingly, we observed significantly reduced Tf uptake by Dnm2 cells, which led to impaired endosome formation. Despite these deficiencies, surprisingly all iron studies were unchanged, suggesting an unexplained alternative mechanism underlies microcytic anaemia in Dnm2 mice. This study provides the first in vivo evidence for the requirements of Dnm2 in normal erythropoiesis.
[Mh] Termos MeSH primário: Anemia Hipocrômica/genética
Dinamina II/genética
Mutação de Sentido Incorreto
[Mh] Termos MeSH secundário: Anemia Hipocrômica/sangue
Animais
Mapeamento Cromossômico/métodos
Modelos Animais de Doenças
Dinamina II/deficiência
Dinamina II/fisiologia
Endocitose/genética
Endocitose/fisiologia
Eritrócitos/metabolismo
Eritrócitos/patologia
Genótipo
Sequenciamento de Nucleotídeos em Larga Escala/métodos
Camundongos Knockout
Transferrina/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Transferrin); EC 3.6.5.5 (Dynamin II)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:180209
[Lr] Data última revisão:
180209
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170504
[St] Status:MEDLINE
[do] DOI:10.1111/bjh.14709


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[PMID]:28447549
[Au] Autor:Capra AP; Ferro E; Cannavò L; La Rosa MA; Zirilli G
[Ad] Endereço:a Department of Human Pathology of Adult and Developmental Age 'Gaetano Barresi' , 'Gaetano Martino' University Hospital of Messina , Messina , Italy.
[Ti] Título:A child with severe iron-deficiency anemia and a complex TMPRSS6 genotype.
[So] Source:Hematology;22(9):559-564, 2017 Oct.
[Is] ISSN:1607-8454
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: We report a case of a 7-year-old girl with severe hypochromic microcytic anemia, who was unresponsive to classical iron supplements. We suspected IRIDA, iron-refractory iron-deficiency anemia, a genetic iron metabolism disorder, caused by TMPRSS6 variations. TMPRSS6 encodes matriptase-2, a negative regulator of hepcidin, and its pathological variants are related to normal to high levels of hepcidin. We analyzed the TMPRSS6 gene and we improved clinical management of the patient, selecting the appropriate supplementation therapy. Intervention & Technique: The parenteral iron therapy was started, but the patient was only partially responsive and the anemia persisted. To confirm the diagnosis, the TMPRSS6 gene sequence was analyzed by DNA sequencing and other relevant biochemical parameters were evaluated. RESULTS: The TMPRSS6 sequence analysis showed a complex genotype with a rare heterozygous missense variant, in addition to other common polymorphisms. The serum hepcidin value was normal. We unexpectedly observed a normalization of patient's hemoglobin (Hb) levels only after liposomal iron treatment. DISCUSSION AND CONCLUSION: The proband was symptomatic for IRIDA during a critical phase of growth and development, but we did not find a clearly causative genotype. A long-term result, improving stably patient's Hb levels, was obtained only after liposomal iron supplementation. Children may be at greater risk for iron deficiency and the degree of anemia as well as the response to the iron supplements varies markedly patient to patient. Here, we show the importance of comprehensive study of these patients in order to collect useful information about genotype-phenotype association of genes involved in iron metabolism.
[Mh] Termos MeSH primário: Anemia Ferropriva/diagnóstico
Anemia Ferropriva/genética
Predisposição Genética para Doença
Genótipo
Proteínas de Membrana/genética
Serina Endopeptidases/genética
[Mh] Termos MeSH secundário: Substituição de Aminoácidos
Anemia Hipocrômica/diagnóstico
Anemia Hipocrômica/genética
Anemia Hipocrômica/terapia
Anemia Ferropriva/terapia
Biomarcadores
Criança
Índices de Eritrócitos
Feminino
Estudos de Associação Genética
Seres Humanos
Mutação
Polimorfismo de Nucleotídeo Único
Análise de Sequência de DNA
Índice de Gravidade de Doença
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (Membrane Proteins); EC 3.4.21.- (Serine Endopeptidases); EC 3.4.21.- (TMPRSS6 protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171009
[Lr] Data última revisão:
171009
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170428
[St] Status:MEDLINE
[do] DOI:10.1080/10245332.2017.1317990


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[PMID]:28185024
[Au] Autor:Barman-Aksoezen J; Girelli D; Aurizi C; Schneider-Yin X; Campostrini N; Barbieri L; Minder EI; Biolcati G
[Ad] Endereço:Institute for Laboratory Medicine, Stadtspital Triemli, Zürich, Switzerland.
[Ti] Título:Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity.
[So] Source:J Inherit Metab Dis;40(3):433-441, 2017 May.
[Is] ISSN:1573-2665
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Patients with erythropoietic protoporphyria (EPP) have reduced activity of the enzyme ferrochelatase that catalyzes the insertion of iron into protoporphyrin IX (PPIX) to form heme. As the result of ferrochelatase deficiency, PPIX accumulates and causes severe photosensitivity. Among different patients, the concentration of PPIX varies considerably. In addition to photosensitivity, patients frequently exhibit low serum iron and a microcytic hypochromic anemia. The aims of this study were to (1) search for factors related to PPIX concentration in EPP, and (2) characterize anemia in EPP, i.e., whether it is the result of an absolute iron deficiency or the anemia of chronic disease (ACD). Blood samples from 67 EPP patients (51 Italian and 16 Swiss) and 21 healthy volunteers were analyzed. EPP patients had lower ferritin (p = 0.021) and hepcidin (p = 0.031) concentrations and higher zinc-protoporphyrin (p < 0.0001) and soluble-transferrin-receptor (p = 0.0007) concentrations compared with controls. This indicated that anemia in EPP resulted from an absolute iron deficiency. Among EPP patients, PPIX concentrations correlated with both growth differentiation factor (GDF) 15 (p = 0.012) and male gender (p = 0.015). Among a subgroup of patients who were iron replete, hemoglobin levels were normal, which suggested that iron but not ferrochelatase is the limiting factor in heme synthesis of individuals with EPP.
[Mh] Termos MeSH primário: Fator 15 de Diferenciação de Crescimento/metabolismo
Ferro/metabolismo
Protoporfiria Eritropoética/metabolismo
[Mh] Termos MeSH secundário: Anemia Hipocrômica/metabolismo
Estudos de Casos e Controles
Eritrócitos/metabolismo
Feminino
Ferritinas/metabolismo
Ferroquelatase/metabolismo
Hemoglobinas/metabolismo
Hepcidinas/metabolismo
Seres Humanos
Masculino
Transtornos de Fotossensibilidade/metabolismo
Protoporfirinas/metabolismo
Índice de Gravidade de Doença
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (GDF15 protein, human); 0 (Growth Differentiation Factor 15); 0 (Hemoglobins); 0 (Hepcidins); 0 (Protoporphyrins); 9007-73-2 (Ferritins); C2K325S808 (protoporphyrin IX); E1UOL152H7 (Iron); EC 4.99.1.1 (Ferrochelatase)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171018
[Lr] Data última revisão:
171018
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170211
[St] Status:MEDLINE
[do] DOI:10.1007/s10545-017-0017-7


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[PMID]:28182576
[Au] Autor:Urrechaga E; Hoffmann JJML
[Ad] Endereço:.
[Ti] Título:Critical appraisal of discriminant formulas for distinguishing thalassemia from iron deficiency in patients with microcytic anemia.
[So] Source:Clin Chem Lab Med;55(10):1582-1591, 2017 Aug 28.
[Is] ISSN:1437-4331
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Many discriminant formulas have been reported for distinguishing thalassemia trait from iron deficiency in patients with microcytic anemia. Independent verification of several discriminant formulas is deficient or even lacking. Therefore, we have retrospectively investigated discriminant formulas in a large, well-characterized patient population. METHODS: The investigational population consisted of 2664 patients with microcytic anemia: 1259 had iron deficiency, 1196 'pure' thalassemia trait (877 ß- and 319 α-thalassemia), 150 had thalassemia trait with concomitant iron deficiency or anemia of chronic disease, and 36 had other diseases. We investigated 25 discriminant formulas that only use hematologic parameters available on all analyzers; formulas with more advanced parameters were disregarded. The diagnostic performance was investigated using ROC analysis. RESULTS: The three best performing formulas were the Jayabose (RDW index), Janel (11T), and Green and King formulas. The differences between them were not statistically significant (p>0.333), but each of them had significantly higher area under the ROC curve than any other formula. The Jayabose and Green and King formulas had the highest sensitivities: 0.917 both. The highest specificity, 0.925, was found for the Janel formula, which is a composite score of 11 other formulas. All investigated formulas performed significantly better in distinguishing ß- than α-thalassemia from iron deficiency. CONCLUSIONS: In our patient population, the Jayabose RDW index, the Green and King formula and the Janel 11T score are superior to all other formulas examined for distinguishing between thalassemia trait and iron deficiency anemia. We confirmed that all formulas perform much better in ß- than in α-thalassemia carriers and also that they incorrectly classify approximately 30% of thalassemia carriers with concomitant other anemia as not having thalassemia. The diagnostic performance of even the best formulas is not high enough for making a final thalassemia diagnosis, but in countries with limited resources, they can be helpful in identifying those patients who need further examinations for genetic anemia.
[Mh] Termos MeSH primário: Anemia Hipocrômica/diagnóstico
Anemia Ferropriva/diagnóstico
Talassemia/diagnóstico
[Mh] Termos MeSH secundário: Área Sob a Curva
Proteína C-Reativa/análise
Diagnóstico Diferencial
Seres Humanos
Ferro/sangue
Curva ROC
Estudos Retrospectivos
Sensibilidade e Especificidade
Talassemia alfa/diagnóstico
Talassemia beta/diagnóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
9007-41-4 (C-Reactive Protein); E1UOL152H7 (Iron)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170925
[Lr] Data última revisão:
170925
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170210
[St] Status:MEDLINE


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[PMID]:28012016
[Au] Autor:Zeng DD; Qin R; Li M; Alamin M; Jin XL; Liu Y; Shi CH
[Ad] Endereço:Department of Agronomy, Zhejiang University, Hangzhou, 310058, China.
[Ti] Título:The ferredoxin-dependent glutamate synthase (OsFd-GOGAT) participates in leaf senescence and the nitrogen remobilization in rice.
[So] Source:Mol Genet Genomics;292(2):385-395, 2017 Apr.
[Is] ISSN:1617-4623
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Ferredoxin-dependent glutamate synthase (Fd-GOGAT, EC 1.4.7.1) plays major roles in photorespiration and primary nitrogen assimilation. However, due to no mutant or knockdown lines of OsFd-GOGAT have been reported in rice (Oryza sativa L.), the contribution of OsFd-GOGAT to rice foliar nitrogen metabolism remains little up-to-date. Here, we isolated a rice premature leaf senescence mutant named gogat1, which was reduced in 67% of the total GOGAT enzyme activity in leaves. The gogat1 mutant exhibited chlorosis under natural condition, while showed less extent premature leaf senescence under low light treatment. The gogat1 locus was mapped to a 54.1 kb region on chromosome 7, and the sequencing of OsFd-GOGAT showed one substitution (A to T) at the 3017th nucleotide of the open reading frame, leading to the amino-acid substitution of leucine changed to histidine. The gogat1 mutant showed reduced seed setting rate, while the grain protein content in gogat1 mutant was significantly higher than that in wild type. Meanwhile, during the grain-filling stage, total amino acids in the up three leaves and the upmost internode were increased dramatically. The results in this study suggested that OsFd-GOGAT might participate in nitrogen remobilization during leaf senescence, which provides a potential way to improve nitrogen use efficiency in rice.
[Mh] Termos MeSH primário: Aminoácido Oxirredutases/metabolismo
Nitrogênio/metabolismo
Oryza/genética
Folhas de Planta/genética
Proteínas de Plantas/metabolismo
[Mh] Termos MeSH secundário: Aminoácido Oxirredutases/genética
Anemia Hipocrômica
Arabidopsis/genética
Mapeamento Cromossômico
Clonagem Molecular
Perfilação da Expressão Gênica
Regulação da Expressão Gênica de Plantas
Genes de Plantas
Luz
Mutação
Oryza/enzimologia
Fenótipo
Folhas de Planta/enzimologia
Proteínas de Plantas/genética
Raízes de Plantas/genética
Espécies Reativas de Oxigênio/metabolismo
Sementes/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Plant Proteins); 0 (Reactive Oxygen Species); EC 1.4.- (Amino Acid Oxidoreductases); EC 1.4.7.1 (glutamate synthase (ferredoxin)); N762921K75 (Nitrogen)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:171007
[Lr] Data última revisão:
171007
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161225
[St] Status:MEDLINE
[do] DOI:10.1007/s00438-016-1275-z


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[PMID]:28007020
[Au] Autor:Lederer CW; Pavlou E; Tanteles GA; Evangelidou P; Sismani C; Kolnagou A; Sitarou M; Christou S; Hadjigavriel M; Kleanthous M
[Ad] Endereço:a Department of Molecular Genetics Thalassaemia , The Cyprus Institute of Neurology and Genetics, Cyprus & Cyprus School of Molecular Medicine , Nicosia , Cyprus.
[Ti] Título:Hb A Episkopi - a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot-Lebanese descent.
[So] Source:Hematology;22(5):304-309, 2017 Jun.
[Is] ISSN:1607-8454
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: Thalassaemia is a potentially lethal inherited anaemia, caused by reduced or absent synthesis of globin chains. Measurement of the minor adult haemoglobin Hb A , combining α- with δ-globin, is critical for the routine diagnosis of carrier status for α- or ß-thalassaemia. Here, we aim to characterize a novel δ-globin variant, Hb A Episkopi, in a single family of mixed Lebanese and Cypriot ancestry with mild hypochromic anaemia and otherwise normal globin genotype, which also presents with a coincidental 0.78-Mb sequence duplication on chromosome 1 (1q44) and developmental abnormalities. METHODS: Analyses included comprehensive haematological analyses, cation-exchange high-performance liquid chromatography (CE-HPLC), cellulose acetate electrophoresis (CAE), Sanger sequencing and structure-based stability predictions for Hb A Episkopi. RESULTS: The GCT > GTT missense mutation, underlying Hb A Episkopi, HBD:c.428C > T, introduces a cd142 codon change in the mature protein, resulting in reduced normal Hb A amounts and a novel, less abundant Hb A variant (HGVS: HBD:p.A143V), detectable as a delayed peak by CE-HPLC. The latter was in line with structure-based stability predictions, which indicated that the substitution of a marginal, non-helical and non-interface residue, five amino acids from the δ-globin chain carboxy-terminus, was moderately destabilizing. DISCUSSION: Detection of the new variant depends on the diagnostic set-up and had failed by CAE and on an independent CE-HPLC system, which, in unfavourable circumstances, may lead to misdiagnoses of ß-thalassaemia as α-thalassaemia. Given the mixed background of the affected family, the ethnic origin of the mutation is unclear, and this study thus suggests awareness for possible detection of Hb A Episkopi in both the Cypriot and the Lebanese populations.
[Mh] Termos MeSH primário: Anemia Hipocrômica/genética
Cromossomos Humanos Par 1/genética
Hemoglobinas Anormais/genética
Mutação de Sentido Incorreto
Globinas delta/genética
[Mh] Termos MeSH secundário: Adulto
Substituição de Aminoácidos
Chipre
Família
Feminino
Seres Humanos
Líbano
Masculino
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hemoglobins, Abnormal); 0 (delta-Globins)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170612
[Lr] Data última revisão:
170612
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161224
[St] Status:MEDLINE
[do] DOI:10.1080/10245332.2016.1265043


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[PMID]:27666489
[Au] Autor:Cambridge EL; McIntyre Z; Clare S; Arends MJ; Goulding D; Isherwood C; Caetano SS; Reviriego CB; Swiatkowska A; Kane L; Harcourt K; Adams DJ; White JK; Speak AO; Sanger Mouse Genetics Project
[Ad] Endereço:Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, UK.
[Ti] Título:The AMP-activated protein kinase beta 1 subunit modulates erythrocyte integrity.
[So] Source:Exp Hematol;45:64-68.e5, 2017 Jan.
[Is] ISSN:1873-2399
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Failure to maintain a normal in vivo erythrocyte half-life results in the development of hemolytic anemia. Half-life is affected by numerous factors, including energy balance, electrolyte gradients, reactive oxygen species, and membrane plasticity. The heterotrimeric AMP-activated protein kinase (AMPK) is an evolutionarily conserved serine/threonine kinase that acts as a critical regulator of cellular energy balance. Previous roles for the alpha 1 and gamma 1 subunits in the control of erythrocyte survival have been reported. In the work described here, we studied the role of the beta 1 subunit in erythrocytes and observed microcytic anemia with compensatory extramedullary hematopoiesis together with splenomegaly and increased osmotic resistance.
[Mh] Termos MeSH primário: Proteínas Quinases Ativadas por AMP/genética
Proteínas Quinases Ativadas por AMP/metabolismo
Eritrócitos/metabolismo
[Mh] Termos MeSH secundário: Anemia Hipocrômica/genética
Anemia Hipocrômica/metabolismo
Anemia Hipocrômica/patologia
Animais
Eritrócitos/citologia
Eritrócitos/patologia
Eritrócitos/ultraestrutura
Eritropoese/genética
Feminino
Expressão Gênica
Masculino
Camundongos
Camundongos Knockout
Isoformas de Proteínas
Baço/metabolismo
Baço/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Protein Isoforms); EC 2.7.11.1 (Prkab1 protein, mouse); EC 2.7.11.31 (AMP-Activated Protein Kinases)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160927
[St] Status:MEDLINE


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[PMID]:27701695
[Au] Autor:Braulke F; Lüders S; Bäsecke J
[Ti] Título:[67-year old woman with long-standing microcytic anemia].
[Ti] Título:67-jährige Frau mit langjähriger mikrozytärer Anämie..
[So] Source:Dtsch Med Wochenschr;141(20):1479, 2016 Sep.
[Is] ISSN:1439-4413
[Cp] País de publicação:Germany
[La] Idioma:ger
[Mh] Termos MeSH primário: Anemia Hipocrômica/diagnóstico
Anemia Hipocrômica/patologia
Eritrócitos/patologia
Talassemia/diagnóstico
Talassemia/patologia
[Mh] Termos MeSH secundário: Idoso
Anemia Hipocrômica/etiologia
Anemia Ferropriva/complicações
Anemia Ferropriva/diagnóstico
Anemia Ferropriva/patologia
Doença Crônica
Diagnóstico Diferencial
Feminino
Seres Humanos
Talassemia/complicações
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161005
[St] Status:MEDLINE


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[PMID]:27658146
[Au] Autor:Buttarello M; Pajola R; Novello E; Mezzapelle G; Plebani M
[Ti] Título:Evaluation of the hypochromic erythrocyte and reticulocyte hemoglobin content provided by the Sysmex XE-5000 analyzer in diagnosis of iron deficiency erythropoiesis.
[So] Source:Clin Chem Lab Med;54(12):1939-1945, 2016 Dec 01.
[Is] ISSN:1437-4331
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Iron deficiency represents the most frequent cause of anemia. To diagnose iron deficiency some biochemical tests such as serum ferritin and the transferring saturation percent (TSAT%) are usually used. Recently, some hematological parameters such as mean reticulocyte hemoglobin content (CHr or Ret-He) and percentage of hypochromic RBCs (Hypo% or %Hypo-He) were proposed as alternative to biochemical tests. In this study, the analytic performance and the diagnostic efficiency of these two parameters provided by Sysmex XE5000 analyzer on iron deficiency patients with or without anemia (IDA and ID, respectively) were evaluated. METHODS: One hundred and sixty-four healthy adults, 58 with IDA, 21 with iron depleted stores (ID), 23 with ß-thalassemia trait, and 24 with non iron deficiency anemia were selected. The gold standard used to define iron deficiency was the coexistence of serum ferritin below 15 µg/L (12 in women) and TSAT <16%. RESULTS: For %Hypo-He, the best cut-off value for both IDA and ID is 0.9% while for Ret-He is 30.6 pg. For both parameters the performance was better to diagnose IDA (AUC, 0.96 and 0.98) than ID (AUC, 0.93 and 0.95). The Ret-He behavior was always slightly better than that of %Hypo-He. CONCLUSIONS: The use of these two parameters is useful to detect iron deficiency conditions if the hemoglobin synthesis has already been compromised.
[Mh] Termos MeSH primário: Anemia Hipocrômica/diagnóstico
Anemia Ferropriva/diagnóstico
Eritrócitos/química
Eritropoese
Hemoglobinas/análise
Reticulócitos/química
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Anemia Ferropriva/sangue
Feminino
Seres Humanos
Masculino
Meia-Idade
Curva ROC
Adulto Jovem
[Pt] Tipo de publicação:EVALUATION STUDIES; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hemoglobins)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160923
[St] Status:MEDLINE


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Sonati, Maria de Fátima
Texto completo
[PMID]:27492768
[Au] Autor:Soler AM; Schelotto M; de Oliveira Mota N; Dorta Ferreira R; Sonati Mde F; da Luz JA
[Ad] Endereço:a Laboratorio De Genética Molecular Humana , Centro Universitario Regional (CENUR) Litoral Norte-Sede Salto, Universidad De La República , Salto , Uruguay.
[Ti] Título:The -(α)(5.2) Deletion Detected in a Uruguayan Family: First Case Report in the Americas.
[So] Source:Hemoglobin;40(4):289-92, 2016 Aug.
[Is] ISSN:1532-432X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:In Uruguay, α-thalassemia (α-thal) mutations were introduced predominantly by Mediterranean European immigrant populations and by slave trade of African populations. A patient with anemia with hypochromia and microcytosis, refractory to iron treatment and with normal hemoglobin (Hb) electrophoresis was analyzed for α-thal mutations by multiplex gap-polymerase chain reaction (gap-PCR), automated sequencing and multiplex ligation-dependent probe amplification (MLPA) analyses. Agarose gel electrophoresis of the multiplex gap-PCR showed a band of unexpected size (approximately 700 bp) in the samples from the proband and mother. Automated sequencing of the amplified fragment showed the presence of the -(α)(5.2) deletion (NG_000006.1: g.32867_38062del5196) [an α-thal-1 deletion of 5196 nucleotides (nts)]. The MLPA analysis of the proband's sample also showed the presence of the -(α)(5.2) deletion in heterozygous state. We report here the presence of the -(α)(5.2) deletion, for the first time in the Americas, in a Uruguayan family with Italian ancestry, detected with a previously described multiplex gap-PCR.
[Mh] Termos MeSH primário: Deleção de Sequência
Talassemia alfa/genética
[Mh] Termos MeSH secundário: Américas
Anemia Hipocrômica/genética
Feminino
Heterozigoto
Seres Humanos
Itália
Masculino
Linhagem
Reação em Cadeia da Polimerase
Uruguai
Talassemia alfa/epidemiologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170223
[Lr] Data última revisão:
170223
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160806
[St] Status:MEDLINE
[do] DOI:10.1080/03630269.2016.1200072



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