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[PMID]: 28450766 [Au] Autor: Vincent O; Oluwaseyi B; James B; Saidat L [Ad] Endereço: Haematology and Blood Transfusion Science Department, University of Lagos, Nigeria. [Ti] Título: Coinheritance of B-Thalassemia and Sickle Cell Anaemia in Southwestern Nigeria. [So] Source: Ethiop J Health Sci;26(6):517-522, 2016 Nov. [Is] ISSN: 2413-7170 [Cp] País de publicação: Ethiopia [La] Idioma: eng [Ab] Resumo: BACKGROUND: Genes for haemoglobin S are found in high frequencies in Nigeria. However, there is little information on beta thalassemia in sickle cell anaemia in this population. The clinical presentation of HbS- ß thalassemia is enormously variable, ranging from an asymptomatic state to a severe disorder similar to homozygous sickle cell disease. MATERIALS AND METHODS: Haemoglobin A and HbF were determined in sickle cell anaemia patients attending LAUTECH Teaching Hospital, Osogbo, by elution after electrophoresis and alkaline denaturation methods respectively. Haematological parameters were estimated using Sysmex KX-21N and percentage target cells using Leishman's staining technique. RESULTS: Exactly 6% f the SCA patients were found to have elevated HbA (>3.3%) and HbF (>1.3%). These patients also had normal erythrocyte indices, increased platelet count, a significantly higher HCT and an increased % target cell. CONCLUSION: These findings confirm that the frequency of beta thalassaemia in sickle cell patients in Nigeria is higher than previously thought. It is therefore important to consider the possibility of this variant in patients with sickle cell anaemia since their course may differ from that of patients with homozygous sickle cell anaemia. [Mh] Termos MeSH primário: Anemia Falciforme/epidemiologia Anemia Falciforme/genética Talassemia beta/epidemiologia Talassemia beta/genética [Mh] Termos MeSH secundário: Estudos Transversais Índices de Eritrócitos Feminino Hemoglobina Fetal/análise Hematócrito Hemoglobina A2/análise Seres Humanos Masculino Nigéria/epidemiologia Contagem de Plaquetas [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 9034-53-1 (Hemoglobin A2); 9034-63-3 (Fetal Hemoglobin) [Em] Mês de entrada: 1802 [Cu] Atualização por classe: 180205 [Lr] Data última revisão: 180205 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170429 [St] Status: MEDLINE

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[PMID]: 28497611 [Au] Autor: Singha K; Srivorakun H; Fucharoen G; Fucharoen S [Ad] Endereço: Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand. [Ti] Título: Co-inheritance of α -thalassemia elevates Hb A level in homozygous Hb E: Diagnostic implications. [So] Source: Int J Lab Hematol;39(5):508-512, 2017 Oct. [Is] ISSN: 1751-553X [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: INTRODUCTION: Differentiation of homozygous hemoglobin (Hb) E with and without α -thalassemia is subtle on routine hematological ground. We examined in a large cohort of homozygous Hb E if the level of Hb A is helpful. METHODS: A total of 592 subjects with homozygous Hb E were recruited from ongoing thalassemia screening program. Additionally, five couples at risk of having fetuses with Hb Bart's hydrops fetalis who were homozygous Hb E were also investigated. Hb analysis was performed using capillary electrophoresis system. Globin genotypes were defined by DNA analysis. RESULTS: Subjects were classified into four groups including pure homozygous Hb E (n=532), homozygous Hb E/α -thalassemia (n=48), Hb Constant Spring EE Bart's disease (n=8), and Hb EE Bart's disease (n=4). The levels of Hb A were found, respectively, to be 4.97±0.69, 6.64±1.02, 4.86±0.87, and 7.60±1.04%. Among five couples at risk, α -thalassemia was identified in three subjects with Hb A >6.0%. CONCLUSIONS: Increased Hb A level is a useful marker for differentiation of homozygous Hb E with and without α -thalassemia. This should lead to a significant reduction in number of referral cases of homozygous Hb E for molecular testing of α -thalassemia in routine practice. [Mh] Termos MeSH primário: Hemoglobina A2/genética Hemoglobina E/genética Homozigoto Padrões de Herança Talassemia alfa/diagnóstico Talassemia alfa/genética [Mh] Termos MeSH secundário: Adulto Biomarcadores Eletroforese Capilar Índices de Eritrócitos Feminino Genótipo Seres Humanos Hidropisia Fetal/diagnóstico Hidropisia Fetal/genética Masculino Mutação Talassemia alfa/sangue [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (Biomarkers); 9034-53-1 (Hemoglobin A2); 9034-61-1 (Hemoglobin E) [Em] Mês de entrada: 1710 [Cu] Atualização por classe: 171019 [Lr] Data última revisão: 171019 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170513 [St] Status: MEDLINE [do] DOI: 10.1111/ijlh.12677

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[PMID]: 28395547 [Au] Autor: Chen B; Lin L; Yi S; Chen Q; Wei H; Li G; Zheng C; He S; Qiu X [Ad] Endereço: a Prenatal Diagnosis Center , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , People's Republic of China. [Ti] Título: A Novel Mutation of the α2-Globin Gene Causing α -Thalassemia: Hb Nanning (HBA2: c.369_370delinsGA). [So] Source: Hemoglobin;41(1):56-58, 2017 Jan. [Is] ISSN: 1532-432X [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: We report a novel mutation on the α2-globin gene, Hb Nanning (HBA2:c.369_370delinsGA) detected in a Chinese family. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant that was undetectable by various separation techniques. Both carriers of the mutation have mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) values that are below normal, as would be predicted for an α -thalassemia (α -thal) patient. [Mh] Termos MeSH primário: Hemoglobina A2/genética Hemoglobinas Anormais/genética Deleção de Sequência alfa-Globinas/genética Talassemia alfa/diagnóstico Talassemia alfa/genética [Mh] Termos MeSH secundário: Adolescente Alelos Substituição de Aminoácidos Biomarcadores Códon Análise Mutacional de DNA Índices de Eritrócitos Feminino Estudos de Associação Genética Heterozigoto Seres Humanos Masculino Meia-Idade Fenótipo Adulto Jovem Talassemia alfa/sangue [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Nm] Nome de substância: 0 (Biomarkers); 0 (Codon); 0 (Hemoglobins, Abnormal); 0 (alpha-Globins); 9034-53-1 (Hemoglobin A2) [Em] Mês de entrada: 1707 [Cu] Atualização por classe: 170707 [Lr] Data última revisão: 170707 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170412 [St] Status: MEDLINE [do] DOI: 10.1080/03630269.2017.1302950

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[PMID]: 28367658 [Au] Autor: Lin L; Chen B; Yi S; Chen Q; Wei H; Li G; Zheng C; Qiu XX; He S [Ad] Endereço: a Prenatal Diagnosis Center , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , PR China. [Ti] Título: A Novel α2-Globin Gene Mutation: Hb Debao [α31(B12)Arg→Trp; HBA2: c.94A>T]. [So] Source: Hemoglobin;41(1):65-67, 2017 Jan. [Is] ISSN: 1532-432X [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: We report a novel mutation on the α2-globin gene, Hb Debao [α31(B12)Arg→Trp; HBA2: c.94A>T] detected in a Chinese family. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant that was undetectable by electrophoretic or chromatographic methods. Hb Debao was associated with an α -thalassemia (α -thal) deletion [-α (rightward)] producing a mild phenotype with significant microcytosis and hypochromia, while the combination of this mutation with an α -thal deletion (-- ) resulting in a severe form of Hb H (ß4) disease, which is consistent with a thalassemic phenotype associated with the novel mutation. [Mh] Termos MeSH primário: Hemoglobina A2/genética Hemoglobinas Anormais/genética Mutação alfa-Globinas/genética Talassemia alfa/diagnóstico Talassemia alfa/genética [Mh] Termos MeSH secundário: Adulto Alelos Processamento Alternativo Substituição de Aminoácidos Criança Códon Análise Mutacional de DNA Índices de Eritrócitos Feminino Genótipo Seres Humanos Lactente Masculino Fenótipo Talassemia alfa/sangue [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Nm] Nome de substância: 0 (Codon); 0 (Hemoglobins, Abnormal); 0 (alpha-Globins); 9034-53-1 (Hemoglobin A2) [Em] Mês de entrada: 1707 [Cu] Atualização por classe: 170707 [Lr] Data última revisão: 170707 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170404 [St] Status: MEDLINE [do] DOI: 10.1080/03630269.2017.1289102

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[PMID]: 28228042 [Au] Autor: Mombo LE; Mabioko-Mbembo G; Kassa-Kassa RF; Ontsitsagui E; Mboui-Ondo S; Nzé-Kamsi L; Nkoghé D; Elion J [Ad] Endereço: a Laboratoire de Biologie Moléculaire et Cellulaire (LABMC) , Université des Sciences et Techniques de Masuku (USTM) , Franceville , Gabon. [Ti] Título: Haemoglobin F, A2, and S levels in subjects with or without sickle cell trait in south-eastern Gabon. [So] Source: Hematology;22(8):508-513, 2017 Sep. [Is] ISSN: 1607-8454 [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: BACKGROUND: Infant mortality due to sickle cell disease in sub-Saharan Africa is high, necessitating a better understanding of the modulating factors of the disease in this region. METHODS: We assessed the hereditary persistence of foetal haemoglobin and α-thalassemia. We diagnosed 787 subjects, with or without sickle cell trait, by capillary electrophoresis in the Medical Diagnostic Laboratory of the CIRMF (Franceville, Gabon). RESULTS: Heterocellular and pancellular forms of hereditary persistence of foetal haemoglobin occurred at low rates of 10.9 and 2.3%, respectively. The distribution of HbS levels in individuals with sickle cell trait was trimodal, showing a high percentage (52.4%) of heterozygous subjects with α-thalassemia. The distribution of HbA2 levels was bimodal in individuals without sickle cell trait, estimated to be comprised of 12 and 15% of α and ß-thalassemic heterozygous subjects, respectively. CONCLUSIONS: In sub-Saharan Africa, α-thalassemia is a far more prevalent modulating factor than hereditary persistence of foetal haemoglobin. Our study highlights the need for further investigation of thalassemia, haemoglobinopathies that are neglected in sub-Saharan Africa. [Mh] Termos MeSH primário: Hemoglobina Fetal/metabolismo Hemoglobina A2/metabolismo Hemoglobina Falciforme/metabolismo Traço Falciforme/sangue [Mh] Termos MeSH secundário: Adolescente Criança Eletroforese Capilar Índices de Eritrócitos Feminino Gabão Seres Humanos Lactente Masculino Gravidez População Rural Traço Falciforme/diagnóstico Traço Falciforme/epidemiologia Adulto Jovem [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (Hemoglobin, Sickle); 9034-53-1 (Hemoglobin A2); 9034-63-3 (Fetal Hemoglobin) [Em] Mês de entrada: 1710 [Cu] Atualização por classe: 171019 [Lr] Data última revisão: 171019 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170224 [St] Status: MEDLINE [do] DOI: 10.1080/10245332.2017.1292622

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[PMID]: 27890718 [Au] Autor: Barrett AN; Saminathan R; Choolani M [Ad] Endereço: Department of Obstetrics & Gynaecology, Yong Loo Lin School of Medicine, National University of Singapore, 10 Medical Drive, 117597, Singapore. Electronic address: obganb@nus.edu.sg. [Ti] Título: Thalassaemia screening and confirmation of carriers in parents. [So] Source: Best Pract Res Clin Obstet Gynaecol;39:27-40, 2017 Feb. [Is] ISSN: 1532-1932 [Cp] País de publicação: Netherlands [La] Idioma: eng [Ab] Resumo: Haemoglobinopathies are among the most common inherited monogenic disorders worldwide. Thalassaemia screening for carrier status is recommended for adults of reproductive age if suspected of being at risk. Conventional laboratory methods for screening include the assessment of haematological indices, and high-performance liquid chromatography, capillary electrophoresis or isoelectric focusing to measure the levels of HbA and HbF, and to identify haemoglobin variants. Each screening method has its advantages and disadvantages, the main disadvantage being that none can fully resolve all variants. The complex nature of the genetics of haemoglobinopathies necessitates expertise in the interpretation of screening results to evaluate the most likely genotypes, which must then be confirmed using the DNA diagnosis. This review highlights the limits and pitfalls of each screening technique, and outlines a rational combination of different methods to overcome issues in thalassaemia carrier detection. [Mh] Termos MeSH primário: Hemoglobinas/análise Heterozigoto Pais Talassemia alfa/diagnóstico Talassemia beta/diagnóstico [Mh] Termos MeSH secundário: Cromatografia Líquida de Alta Pressão Eletroforese Capilar Índices de Eritrócitos Feminino Hemoglobina Fetal/análise Hemoglobina Fetal/genética Triagem de Portadores Genéticos/métodos Hemoglobina A2/análise Hemoglobina A2/genética Hemoglobinas/genética Seres Humanos Recém-Nascido Focalização Isoelétrica Masculino Programas de Rastreamento Triagem Neonatal Cuidado Pré-Concepcional Gravidez Diagnóstico Pré-Natal Talassemia alfa/genética Talassemia beta/genética [Pt] Tipo de publicação: JOURNAL ARTICLE; REVIEW [Nm] Nome de substância: 0 (Hemoglobins); 9034-53-1 (Hemoglobin A2); 9034-63-3 (Fetal Hemoglobin) [Em] Mês de entrada: 1703 [Cu] Atualização por classe: 171116 [Lr] Data última revisão: 171116 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 161129 [St] Status: MEDLINE

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[PMID]: 27394049 [Au] Autor: Rungsee P; Kongthai K; Pornprasert S [Ti] Título: Detection of the common South-East Asian ß0-thalassemia mutations in samples with borderline HbA2 levels. [So] Source: Clin Chem Lab Med;55(1):e17-e20, 2017 Jan 01. [Is] ISSN: 1437-4331 [Cp] País de publicação: Germany [La] Idioma: eng [Mh] Termos MeSH primário: Análise Mutacional de DNA Hemoglobina A2/análise Talassemia beta/genética [Mh] Termos MeSH secundário: Ásia Sudeste Seres Humanos Mutação Talassemia beta/sangue [Pt] Tipo de publicação: LETTER [Nm] Nome de substância: 9034-53-1 (Hemoglobin A2) [Em] Mês de entrada: 1702 [Cu] Atualização por classe: 170817 [Lr] Data última revisão: 170817 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 160710 [St] Status: MEDLINE

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[PMID]: 27387985 [Au] Autor: Villegas A; González FA; Nieto JM; de la Fuente-Gonzalo F; Martínez R; Torrejón MJ; Ropero P [Ad] Endereço: Servicio de Hematología y Hemoterapia, Hospital Clínico San Carlos, IdISS, Madrid, Spain. [Ti] Título: Haemoglobinopathies that occur with decreased HbA2 levels: a gene mutation set involving the δ gene at a Spanish centre. [So] Source: J Clin Pathol;70(1):75-80, 2017 Jan. [Is] ISSN: 1472-4146 [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: AIMS: Haemoglobin A (HbA ) consists of two globin chains, α and ß. Alterations in any of these genes influences the level of HbA . Here, we present cases of structural Hb variants and thalassaemias which present either alone or together and reduce the level of HbA at varying degrees. Furthermore, we present a novel structural mutation in the δ globin gene, called Hb A -Madrid. METHODS: The levels of HbA and HbF and the different haemoglobin variants were measured and analysed by ion exchange high performance liquid chromatography (HPLC, VARIANT II), the types of haemoglobins were determined by capillary zone electrophoresis (CZE) (Sebia) and the globin chains were determined by reversed-phase HPLC. Genetic analysis was performed by automatic sequencing of the α and δ genes as well as by multiple PCRs for the α globin genes. RESULTS: In α thalassaemia (n=94), the HbA levels ranged from 1.39% to 2.43%. Among individuals with δ thalassaemia (n=5), the HbA level of those with δ thalassaemia was 1.77%, and that of those with δ thalassaemia was 1.70%. Among the individuals with 뫧 thalassaemia (n=13), those who were homozygous lacked HbA . All structural haemoglobinopathies (n=97) were heterozygous; the α chain variants (n=84) presented with an HbA level of 1.76%, while the δ chain variants (n=13) presented with a level of 1.75%. CONCLUSION: HbA is an essential parameter in the diagnostics of haemoglobinopathies. HPLC-EC and CZE allow the quantification of HbA . Here, we show that quantification of HbA is critical for the identification of α, δ and ßδ thalassaemias. Structural variants are discovered by HPLC. Molecular genetics is required for the proper identification of the mutations. Only with this knowledge is genetic counselling possible. [Mh] Termos MeSH primário: Hemoglobina A2/genética Hemoglobinopatias/diagnóstico [Mh] Termos MeSH secundário: Cromatografia Líquida de Alta Pressão Eletroforese Capilar Hemoglobinopatias/sangue Hemoglobinopatias/genética Heterozigoto Seres Humanos Mutação Talassemia alfa/sangue Talassemia alfa/diagnóstico Talassemia alfa/genética Talassemia beta/sangue Talassemia beta/diagnóstico Talassemia beta/genética Talassemia delta/sangue Talassemia delta/diagnóstico Talassemia delta/genética [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 9034-53-1 (Hemoglobin A2) [Em] Mês de entrada: 1702 [Cu] Atualização por classe: 170405 [Lr] Data última revisão: 170405 [Sb] Subgrupo de revista: AIM; IM [Da] Data de entrada para processamento: 160709 [St] Status: MEDLINE [do] DOI: 10.1136/jclinpath-2016-203879

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[PMID]: 28266198 [Au] Autor: Aslan D [Ad] Endereço: Division of Pediatric Hematology, Department of Pediatrics, Gazi University, Faculty of Medicine, Ankara, Turkey. [Ti] Título: "Silent" ß-thalassemia mutation (promoter nt-101 C > T) with increased hemoglobin A . [So] Source: Turk J Pediatr;58(3):305-308, 2016. [Is] ISSN: 0041-4301 [Cp] País de publicação: Turkey [La] Idioma: eng [Ab] Resumo: One of the most common silent ß-thalassemia mutations is the C > T substitution at position -101 within the distal CACCC box, which leads to a mild reduction in the expression level of the ß-globin gene. Carriers of this mutation have a normal hematologic picture without microcytosis and borderline hemoglobin A2 values, and may be missed during screening. Co-occurrence of this mutation with one of the classical ß-thalassemia mutations leads to ß-thalassemia intermedia, and this is important for Mediterranean populations where ß-thalassemia is frequent. Awareness of this mutation, which may have a heterogeneous clinical presentation, is required. We herein present the unusual hematologic findings of a Turkish family carrying this mutation. [Mh] Termos MeSH primário: Globinas/genética Hemoglobina A2/metabolismo Talassemia beta/genética [Mh] Termos MeSH secundário: Criança Pré-Escolar Feminino Heterozigoto Seres Humanos Masculino Mutação Regiões Promotoras Genéticas Turquia Talassemia beta/diagnóstico [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Nm] Nome de substância: 9004-22-2 (Globins); 9034-53-1 (Hemoglobin A2) [Em] Mês de entrada: 1706 [Cu] Atualização por classe: 170626 [Lr] Data última revisão: 170626 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 170308 [St] Status: MEDLINE

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[PMID]: 27870471 [Au] Autor: Urrechaga E [Ad] Endereço: Hematology Laboratory, Hospital Galdakao - Usansolo, Galdakao, Vizcaya, Spain. [Ti] Título: Analytical evaluation of the ADAMS A1c HA 8180 thalassemia mode high-pressure liquid chromatography analyser for the measurement of HbA and HbF. [So] Source: Int J Lab Hematol;38(6):658-662, 2016 Dec. [Is] ISSN: 1751-553X [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: BACKGROUND: ADAMS A1cHA-8180T is a HPLC system; within 3.5 min, it quantifies HbF, HbA , and HbA and flags abnormal peaks. We evaluate its analytical performance for routine estimation of HbA and HbF, and critical tests were performed for identifying ß-thalassemia carriers. METHODS: Trueness imprecision, carry over, linearity, and effect of anemia were evaluated according to ICLH, ICLS, or manufacture's guidelines. Comparison (ADAMS A1c HA-8160T) was performed by running 400 samples from healthy subjects, 30 alpha and 80 beta carriers (range: 1.9-5.7 %). RESULTS: Trueness - HbA 2.7 %, bias 0.81 %; HbA 5.8 %, bias 0.38 %. HbA 4.0% is not affected by Hb in the range 221-40 g/L. Carry over was negligible. Within run: normal control - CV 1.5 %, high control - CV 0.9 %.Within laboratory: normal control - total CV% 1.59%; high control - 0.92 %. Linearity - y = 1.034x - 0.17, R = 0.998 (range: 2.8-4.8%).Method comparison - y = 0.93x + 0.22, R  = 0.997. HbF imprecision CVs between 0.66 and 1.24% and trueness between 0 and 2.8%. Linearity - y = 1.088x - 0.27, R  = 0.999 (0.1-5.7%). CONCLUSIONS: ADAMS A1c HA-8180T provides a rapid and reliable separation of HbA . The measurement is accurate and reproducible, which is needed because of the slight difference between normal and pathological values. The gap in HbA values between normal subjects and ß-thalassemia carriers makes this an appropriate method for rapid screening for carriers. [Mh] Termos MeSH primário: Cromatografia Líquida de Alta Pressão Hemoglobina Fetal/análise Hemoglobina A2/análise [Mh] Termos MeSH secundário: Estudos de Casos e Controles Cromatografia Líquida de Alta Pressão/instrumentação Triagem de Portadores Genéticos Ensaios de Triagem em Larga Escala/instrumentação Ensaios de Triagem em Larga Escala/métodos Seres Humanos Talassemia beta/diagnóstico [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 9034-53-1 (Hemoglobin A2); 9034-63-3 (Fetal Hemoglobin) [Em] Mês de entrada: 1702 [Cu] Atualização por classe: 171116 [Lr] Data última revisão: 171116 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 161122 [St] Status: MEDLINE [do] DOI: 10.1111/ijlh.12554

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