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[PMID]: 27997753 [Au] Autor: Wu MY; Li J; Yan JM; Zhang Y; Li DZ [Ad] Endereço: Prenatal Diagnostic Center, Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China. [Ti] Título: Characterization of a novel ß-globin gene cluster deletion causing ( γδß) -thalassemia by next-generation sequencing. [So] Source: Int J Lab Hematol;39(1):e19-e22, 2017 Feb. [Is] ISSN: 1751-553X [Cp] País de publicação: England [La] Idioma: eng [Mh] Termos MeSH primário: Sequenciamento de Nucleotídeos em Larga Escala Mutação Globinas beta/genética Talassemia beta/genética Talassemia delta/genética [Mh] Termos MeSH secundário: Pré-Escolar Feminino Seres Humanos Masculino [Pt] Tipo de publicação: CASE REPORTS; LETTER [Nm] Nome de substância: 0 (beta-Globins) [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: 161221 [St] Status: MEDLINE [do] DOI: 10.1111/ijlh.12580

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[PMID]: 27591578 [Au] Autor: Fornari TA; Lanaro C; Albuquerque DM; Ferreira R; Costa FF [Ad] Endereço: Hemocentro-UNICAMP - SP, Brazil, São Paulo 13083-878, Brazil. [Ti] Título: Featured Article: Modulation of fetal hemoglobin in hereditary persistence of fetal hemoglobin deletion type-2, compared to Sicilian δß-thalassemia, by BCL11A and SOX6-targeting microRNAs. [So] Source: Exp Biol Med (Maywood);242(3):267-274, 2017 Feb. [Is] ISSN: 1535-3699 [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: Hereditary persistence of fetal hemoglobin deletion type-2 (HPFH-2) and Sicilian-δß-thalassemia are conditions described as large deletions of the human ß-like globin cluster, with absent ß-globin chains and a compensatory variable increase in γ-globin. HPFH, in general, may be distinguished from DB-Thalassemia by higher fetal hemoglobin (HbF) levels, absence of anemia and hypochromic and microcytic erythrocytes. MicroRNAs (miRNAs) regulate a range of cellular processes including erythropoiesis and regulation of transcription factors such as the BCL11A and SOX6 genes, which are related to the regulation of γ-globin expression. In this report, a possible association among the overexpression of miRNAs and the expression of the γ-globin gene was analyzed in these two conditions. Forty-nine differentially expressed miRNAs were identified by microarrays in CD34+-derived erythroid cells of two subjects heterozygous for Sicilian-δß-thalassemia, 2 for HPFH-2 and 3 for controls after 13 days of culture. Some of these miRNAs may participate in γ-globin gene regulation and red blood cell function. The BCL11A gene was found to be potentially targeted by 12 miRNAs that were up-regulated in HPFH-2 or in DB-Thal. A down-regulation of BCL11A gene expression in HPFH-2 was verified by quantitative polymerase chain reaction. These data suggest an important action for miRNA that may partially explain the phenotypic differences between HPFH-2 and Sicilian δß-thalassemia and the increased expression of γ-globin in these conditions. [Mh] Termos MeSH primário: Proteínas de Transporte/genética Hemoglobina Fetal/genética MicroRNAs/genética Proteínas Nucleares/genética Fatores de Transcrição SOXD/genética Globinas beta/genética Talassemia beta/genética Talassemia delta/genética gama-Globinas/genética [Mh] Termos MeSH secundário: Antígenos CD34/metabolismo Sequência de Bases Regulação para Baixo/genética Feminino Seres Humanos Masculino MicroRNAs/biossíntese Reação em Cadeia da Polimerase em Tempo Real Análise de Sequência de DNA Deleção de Sequência/genética gama-Globinas/metabolismo [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (Antigens, CD34); 0 (BCL11A protein, human); 0 (Carrier Proteins); 0 (MicroRNAs); 0 (Nuclear Proteins); 0 (SOX6 protein, human); 0 (SOXD Transcription Factors); 0 (beta-Globins); 0 (gamma-Globins); 9034-63-3 (Fetal Hemoglobin) [Em] Mês de entrada: 1706 [Cu] Atualização por classe: 170801 [Lr] Data última revisão: 170801 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 160904 [St] Status: MEDLINE [do] DOI: 10.1177/1535370216668052

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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]: 27561840 [Au] Autor: Trova S; Mereu P; Cocco E; Masala B; Manca L; Pirastru M [Ad] Endereço: Dipartimento di Scienze Biomediche, Università di Sassari, Sassari, Italia. [Ti] Título: The New -474(C→T) Substitution Discovered in the HBG2 Promoter of a Sardinian δß-Thalassemia Carrier. [So] Source: Acta Haematol;136(3):178-85, 2016. [Is] ISSN: 1421-9662 [Cp] País de publicação: Switzerland [La] Idioma: eng [Ab] Resumo: During a screening for hemoglobinopathies, we found a carrier of the Sardinian δß-thalassemia condition. The proband's hematology and hemoglobin (Hb) profile agreed with those of the other carriers previously identified during our diagnostic program except for the fetal Hb (HbF) composition, which consisted of both α2Aγ2 and α2Gγ2 instead of nearly 100% α2Aγ2. In order to explain the unusual γ-chain ratio, sequencing of the Gγ promoter was carried out and revealed two nucleotide substitutions in cis: C→T at position -474 and A→G at position -309 from the Cap site. The latter had previously been observed in subjects with raised HbF levels, although it has not yet been evaluated at functional level. We used the luciferase assay to determine whether the two mutations modify the transcriptional activity of the Gγ promoter. Results indicated that the observed in vivo Gγ-globin production cannot be translated into increased in vitro promoter function, suggesting that the assessed mutations cannot be considered as functional single nucleotide polymorphisms per se; instead, a more complex regulatory mechanism might be involved. [Mh] Termos MeSH primário: Hemoglobina Fetal/genética Regulação da Expressão Gênica/genética Região de Controle de Locus Gênico/genética Mutação Puntual Regiões Promotoras Genéticas/genética Talassemia beta/genética Talassemia delta/genética [Mh] Termos MeSH secundário: Adulto Feminino Hemoglobina Fetal/biossíntese Seres Humanos Itália Masculino Talassemia beta/sangue Talassemia delta/sangue [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 9034-63-3 (Fetal Hemoglobin) [Em] Mês de entrada: 1612 [Cu] Atualização por classe: 161230 [Lr] Data última revisão: 161230 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 160827 [St] Status: MEDLINE [do] DOI: 10.1159/000447942

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[PMID]: 27535164 [Au] Autor: Orts JA; Zúñiga Á; Bello Y; Fabregat AB; Vicente AI [Ad] Endereço: a Department of Biochemistry , Hospital Universitario de la Ribera , Alzira , Valencia , Spain. [Ti] Título: Hb A Determination by Capillary Electrophoresis is an Efficient Method for Detecting ß-Thalassemias and Hemoglobin Variants. [So] Source: Hemoglobin;40(5):335-340, 2016 Sep. [Is] ISSN: 1532-432X [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: Glycated hemoglobin (Hb A ) determination by multicapillary zone electrophoresis (MZE) can additionally be used to detect Hb A , Hb F and most common hemoglobin (Hb) variants. We assessed the effectiveness of this method for detecting ß-thalassemia (ß-thal), δß-thalassemia (δß-thal) and most common Hb variants. Moreover, Hb F/Hb A is evaluated as an index for discriminating between ß- and δß-thal traits. The theoretical ß-thalassemia major (ß-TM) birth rate in our healthcare area is calculated and contrasted with real data. A MZE technique was used for Hb A measurements in 27,724 patients. Previous criteria for carrier detection were established and subsequently confirmed by molecular biology techniques. Positive predictive value (PPV) was 100.0%. The prevalence of ß-thal trait (including δß-thal) was 0.34%. The most prevalent mutations (estimated per 100,000 population) were HBB: c.118C > T (57.7%), HBB: c.93-21G>A (50.5%), HBB: c.92 + 1G > A (43.3%), HBB: c.92 + 6T > C (32.5%) and HBB: c.20delA (18.0%) for ß-thalassemias, and Hb S (HBB: c.20A > T) (32.5%) and Hb J-Baltimore (HBB:c.3880T>A) (28.9%) for Hb variants. We found a paradoxical result between the theoretical ß-TM birth rate and real data. We calculated an optimal Hb F/Hb A index cutoff of 0.71 for discriminating between ß- and δß-thal traits. This method is highly cost-effective for detecting ß-thalassemias and common Hb variants. Prevalence results match previous data for the Spanish population. Heterogeneity of mutations in Spain has markedly increased as a consequence of migration. The Hb F/Hb A index cutoff could be used to predict δß-thal trait. [Mh] Termos MeSH primário: Eletroforese Capilar/métodos Hemoglobina A Glicada/análise Hemoglobinas Anormais/genética Talassemia beta/diagnóstico [Mh] Termos MeSH secundário: Diagnóstico Diferencial Hemoglobina Fetal/análise Hemoglobina A2/análise Hemoglobinopatias/diagnóstico Hemoglobinopatias/epidemiologia Hemoglobinopatias/genética Seres Humanos Prevalência Espanha Talassemia beta/epidemiologia Talassemia delta/diagnóstico Talassemia delta/epidemiologia [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (Glycated Hemoglobin A); 0 (Hemoglobins, Abnormal); 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: 160819 [St] Status: MEDLINE

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[PMID]: 27392662 [Au] Autor: Vagace JM; Cardesa R; Corbacho A; Vázquez T; de la Maya MD; Gonzalez FA; Nieto JB; Urrutia E; Gómez MJ; Pascual T; Aguinaco MR; Gervasini G [Ad] Endereço: Service of Hematology, Infanta Cristina University Hospital, Badajoz, Spain. [Ti] Título: Etiopathological mechanisms and clinical characteristics of hyperhemolysis syndrome in Spanish patients with thalassemia. [So] Source: Ann Hematol;95(9):1419-27, 2016 Sep. [Is] ISSN: 1432-0584 [Cp] País de publicação: Germany [La] Idioma: eng [Ab] Resumo: Hyperhemolysis syndrome (HHS) is characterized by severe intravascular hemolysis with a decrease in the reticulocyte count, which is triggered and aggravated by transfusion and cannot be explained by standard immunohematological studies. A nationwide study was conducted in order to retrospectively identify thalassemia patients with HHS in Spain in order to assess pre-disposing mechanisms for this syndrome. For this, the expression of adhesion (CD49, CD36) and complement-related molecules (C3a, CD59) and the levels of reticulocyte apoptosis and macrophage activation were measured in 4 thalassemia patients with HHS, 14 patients without HHS, and 10 healthy subjects. Five of the six thalassemia patients had δß-thalassemia. The patients were not alloimmunized prior to the syndrome, which was developed after the first transfusion in all but one case. Patients with δß-thalassemia did not respond to corticoids or immunoglobulins; only splenectomy was successful. The expression of CD49 (α4ß1 integrin) was far higher in patients who had experienced HHS (85.07 ± 18.46 vs. 46.28 ± 24.31; p < 0.01), and the difference remained significant after correcting by the number of molecules analyzed (Bonferroni p < 0.05). In our population, δß-thalassemia was the most common hemoglobinopathy in patients with HHS. Furthermore, the risk to develop this syndrome may be associated with an increased expression of α4ß1 integrin. [Mh] Termos MeSH primário: Transfusão de Sangue/métodos Hemólise/fisiologia Talassemia/fisiopatologia Talassemia/terapia [Mh] Termos MeSH secundário: Adolescente Adulto Apoptose Antígenos CD36/sangue Antígenos CD59/sangue Complemento C3a/análise Feminino Citometria de Fluxo Seres Humanos Integrina alfa1/sangue Ativação de Macrófagos Masculino Meia-Idade Reticulócitos/metabolismo Estudos Retrospectivos Fatores de Risco Espanha Síndrome Talassemia/sangue Adulto Jovem Talassemia beta/sangue Talassemia beta/fisiopatologia Talassemia beta/terapia Talassemia delta/sangue Talassemia delta/fisiopatologia Talassemia delta/terapia [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (CD36 Antigens); 0 (CD59 Antigens); 0 (Integrin alpha1); 101754-01-2 (CD59 protein, human); 80295-42-7 (Complement C3a) [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: 160710 [St] Status: MEDLINE [do] DOI: 10.1007/s00277-016-2733-8

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[PMID]: 26754299 [Au] Autor: Kordafshari A; Amirian A; Zeinali S; Valaei A; Maryami F; Karimipoor M [Ad] Endereço: a Department of Molecular Medicine , Biotechnology Research Centre, Pasteur Institute of Iran , Tehran , Iran. [Ti] Título: Molecular Characterization of δ-Thalassemia in Iran. [So] Source: Hemoglobin;40(1):44-7, 2016. [Is] ISSN: 1532-432X [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: δ-Thalassemia (δ-thal) (OMIM #142000) resulting from mutations on the HBD gene usually has no clinical consequences. However, it may cause the misdiagnosis of ß-thalassemia (ß-thal) carriers by lowering the Hb A2 level to the normal range. Therefore, a study for δ-thal should be considered as a step in the detection of at-risk couple in our region. The aim of the present study was to characterize the mutations of the HBD gene in ß-thal carriers with normal Hb A2 levels, and also in normal individuals with Hb A2 of less than 2.0%. Four ß-thal carriers with normal Hb A2 and 39 individuals with Hb A2 of less than 2.0% were enrolled. Genomic DNA was extracted by the salting out method and the HBD gene was investigated by polymerase chain reaction (PCR) and direct DNA sequencing. Hb A2-Yialousa (HBD: c.82 G > T) was the most common variant found in the HBD gene, but the following mutations were also found: Hb A2-NYU (HBD: c.39 T > A), Hb A2-Coburg (HBD: c.350 G > A), Hb A2-Etolia (HBD: c.257 T > C), Hb A2-Fitzroy (HBD: c.428 C > A) and the δ-IVS-I-5 (G > T) (HBD: c.92 + 5 G > T). One case was a compound heterozygote for δ-IVS-I-5/Hb A2-Fitzroy. The results of this single center study suggest that the mutations in the HBD gene in the Iranian population are heterogeneous and should be considered in genetic counseling of families. [Mh] Termos MeSH primário: Hemoglobina A2/genética Mutação Talassemia delta/epidemiologia Talassemia delta/genética [Mh] Termos MeSH secundário: Genótipo Hemoglobinas Anormais/genética Seres Humanos Irã (Geográfico)/epidemiologia [Pt] Tipo de publicação: JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T [Nm] Nome de substância: 0 (Hemoglobins, Abnormal); 0 (hemoglobin A2 Etolia); 9034-53-1 (Hemoglobin A2); 9035-13-6 (hemoglobin NYU); 93051-96-8 (hemoglobin A2 Fitzroy) [Em] Mês de entrada: 1610 [Cu] Atualização por classe: 161230 [Lr] Data última revisão: 161230 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 160113 [St] Status: MEDLINE [do] DOI: 10.3109/03630269.2015.1092982

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[PMID]: 26265587 [Au] Autor: Velasco-Rodríguez D; Alonso-Domínguez JM; González-Fernández FA; Villarrubia J; Sopeña M; Abalo L; Ropero P; Martínez-Nieto J; de la Fuente Gonzalo F; Cava F [Ad] Endereço: Department of Haematology, Laboratorio Central de la Comunidad de Madrid, Madrid, Spain Programa de Doctorado de Investigación en Ciencias Médico-Quirúrgicas, Universidad Complutense de Madrid, Madrid, Spain Department of Haematology, Hospital Ramón y Cajal, Madrid, Spain. [Ti] Título: Reticulocyte parameters of delta beta thalassaemia trait, beta thalassaemia trait and iron deficiency anaemia. [So] Source: J Clin Pathol;69(2):149-54, 2016 Feb. [Is] ISSN: 1472-4146 [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: AIMS: To analyse the differences in reticulocyte indices between delta beta thalassaemia trait (δß-TT), beta thalassaemia trait (ß-TT) and iron deficiency anaemia (IDA), and to correlate those differences with the physiopathological features of these three types of microcytoses. METHODS: We performed a descriptive study of 428 samples (43 δß-TT, 179 ß-TT and 206 IDA) that were run on Advia 2120 analyser (Siemens). The following reticulocyte indices were assessed: absolute reticulocyte count (ARC), percentage of reticulocytes, mean corpuscular volume of reticulocytes (MCVr), haemoglobin content of reticulocytes (CHr), mean corpuscular haemoglobin concentration of reticulocytes, red blood cell distribution width of reticulocytes (RDWr), haemoglobin distribution width of reticulocytes (HDWr) and reticulocyte subpopulations based on their fluorescence according to mRNA (low (L-R), medium (M-R) and high (H-R)), MCV ratio and MCHC ratio. Correlation between fetal haemoglobin (HbF) and RDWr in patients with thalassaemia was evaluated. RESULTS: RDWr was significantly higher in δß-TT compared with ß-TT (15.03% vs 13.82%, p<0.001), and so were HDWr (3.65% vs 3.27%, p<0.001), CHr (23.68 vs 22.66 pg, p<0.001) and MCVr (88.3 vs 85.5 fL, p<0.001). A good correlation was observed between HbF and RDWr (r=0.551, p<0.001). IDA subjects have more immature reticulocytes, but less ARC than ß-TT, suggesting a certain degree of inefficient erythropoiesis in IDA in comparison with ß-TT. CONCLUSIONS: Previously described differences between δß-TT, ß-TT and IDA in the corpuscular indices of mature red blood cell can also be observed in reticulocytes. The degree of anisocytosis in reticulocytes from patients with thalassaemia is correlated with HbF. [Mh] Termos MeSH primário: Anemia Ferropriva/sangue Reticulócitos Talassemia beta/sangue Talassemia delta/sangue [Mh] Termos MeSH secundário: Anemia Ferropriva/diagnóstico Biomarcadores/sangue Contagem de Eritrócitos Índices de Eritrócitos Hemoglobinas/análise Seres Humanos Valor Preditivo dos Testes Reticulócitos/metabolismo Reticulócitos/patologia Talassemia beta/diagnóstico Talassemia delta/diagnóstico [Pt] Tipo de publicação: COMPARATIVE STUDY; JOURNAL ARTICLE [Nm] Nome de substância: 0 (Biomarkers); 0 (Hemoglobins) [Em] Mês de entrada: 1606 [Cu] Atualização por classe: 160122 [Lr] Data última revisão: 160122 [Sb] Subgrupo de revista: AIM; IM [Da] Data de entrada para processamento: 150813 [St] Status: MEDLINE [do] DOI: 10.1136/jclinpath-2015-203034

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[PMID]: 26524894 [Au] Autor: Inaba T; Shimomoto B; Hirose Y; Shimotsuma M; Nanbu A; Komori T; Nakamura T; Yamashiro Y; Fujita N [Ti] Título: [Testicular Tumor in a Patient with Delta Thalassemia Complicated with Hereditary Persistence of Fetal Hemoglobin]. [So] Source: Rinsho Byori;63(5):557-61, 2015 May. [Is] ISSN: 0047-1860 [Cp] País de publicação: Japan [La] Idioma: jpn [Ab] Resumo: A 30s male was diagnosed as having the left testicular tumor in 2010. He received the anti-neoplastic chemotherapy, and could achieve the complete remission. But, he relapsed with solitary retroperitoneal lymph node swelling in 2012, and he was referred to our hospital. Laboratory examination on his admission showed the significant increase of fetal hemoglobin (HbF) up to 16.4%. But, neither anemia nor hemolysis was found at that time. Coexistence of therapy-related myeloid neoplasm or HbF production by metastatic lesion was not definite. Isoelectrofocusing of his hemolysate showed the faint HbA2 in addition to dense HbF band. Molecular analysis of his Hb gene revealed the homozygous (G)gamma-158 (C-T) together with homozygous delta-77(T-C). From these findings, he was diagnosed as having hereditary persistence of HbF (HPFH) and homozygous delta thalassemia. The precise incidence of such combined genetic variation has been unknown because the majority of such cases seem to show no significant clinical symptoms as our case. Whereas, it seems necessary to remind the possibility of such genetic variation when adult patients with various acquired diseases such as testicular tumor or hematologic malignancies show the elevated HbF level. [Mh] Termos MeSH primário: Hemoglobina Fetal/genética Neoplasias Testiculares/etiologia Talassemia delta/complicações Talassemia delta/genética [Mh] Termos MeSH secundário: Adulto Predisposição Genética para Doença Homozigoto Seres Humanos Linfonodos/patologia Masculino Recidiva Local de Neoplasia Espaço Retroperitoneal Neoplasias Testiculares/patologia Talassemia delta/diagnóstico [Pt] Tipo de publicação: CASE REPORTS; ENGLISH ABSTRACT; JOURNAL ARTICLE [Nm] Nome de substância: 9034-63-3 (Fetal Hemoglobin) [Em] Mês de entrada: 1602 [Cu] Atualização por classe: 151103 [Lr] Data última revisão: 151103 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 151104 [St] Status: MEDLINE

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[PMID]: 26154945 [Au] Autor: Waye JS; Eng B; Got T; Hanna M; Hohenadel BA; Nakamura LM; Walker L [Ad] Endereço: a Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences , Hamilton , Ontario , Canada. [Ti] Título: Sudanese (δß)0-Thalassemia: Identification and Characterization of a Novel 9.6 kb Deletion. [So] Source: Hemoglobin;39(5):368-70, 2015. [Is] ISSN: 1532-432X [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: We report a case of δß-thalassemia (δß-thal) trait in an adult male originally from Sudan. Multiplex ligation-dependent probe amplification (MLPA) was used to localize the approximate boundaries of the deletion, followed by polymerase chain reaction (PCR) amplification and sequence analysis of the junction fragment to determine the precise deletion endpoints. The deletion spans 9594 bp, with the 5' deletion endpoint located 1560 bp upstream of the δ-globin gene and the 3' endpoint within the second intervening sequence (IVS-II) of the ß-globin gene. [Mh] Termos MeSH primário: Mutação Globinas beta/genética Talassemia beta/diagnóstico Talassemia beta/genética Globinas delta/genética Talassemia delta/diagnóstico Talassemia delta/genética [Mh] Termos MeSH secundário: Adulto Sequência de Bases Análise Mutacional de DNA Genótipo Seres Humanos Íntrons Masculino Fenótipo Deleção de Sequência Sudão Globinas beta/química Globinas delta/química [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Nm] Nome de substância: 0 (beta-Globins); 0 (delta-Globins) [Em] Mês de entrada: 1606 [Cu] Atualização por classe: 150902 [Lr] Data última revisão: 150902 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 150709 [St] Status: MEDLINE [do] DOI: 10.3109/03630269.2015.1057736

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1			PalavrasDescritor de assuntoDescritor de assunto primárioLimitesAutorPalavras do títuloPalavras do resumoIdiomaPaís de publicaçãoNome de substânciaNome de pessoa como assuntoRevistaAssunto de RevistaISSNTipo de publicaçãoIdentificador únicoMês de entradaAno de publicaçãoTexto completoAtualização por classeCategoria DeCSCategoria DeCS explodidaCategoria CID-10SubSetsPais de AfiliaçãoAfiliaçãoAfiliação 2
2	and or and not		PalavrasDescritor de assuntoDescritor de assunto primárioLimitesAutorPalavras do títuloPalavras do resumoIdiomaPaís de publicaçãoNome de substânciaNome de pessoa como assuntoRevistaAssunto de RevistaISSNTipo de publicaçãoIdentificador únicoMês de entradaAno de publicaçãoTexto completoAtualização por classeCategoria DeCSCategoria DeCS explodidaCategoria CID-10SubSetsPais de AfiliaçãoAfiliaçãoAfiliação 2
3	and or and not		PalavrasDescritor de assuntoDescritor de assunto primárioLimitesAutorPalavras do títuloPalavras do resumoIdiomaPaís de publicaçãoNome de substânciaNome de pessoa como assuntoRevistaAssunto de RevistaISSNTipo de publicaçãoIdentificador únicoMês de entradaAno de publicaçãoTexto completoAtualização por classeCategoria DeCSCategoria DeCS explodidaCategoria CID-10SubSetsPais de AfiliaçãoAfiliaçãoAfiliação 2

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