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[PMID]:28399852
[Au] Autor:Aleluia MM; da Guarda CC; Santiago RP; Fonseca TC; Neves FI; de Souza RQ; Farias LA; Pimenta FA; Fiuza LM; Pitanga TN; Ferreira JR; Adorno EV; Cerqueira BA; Gonçalves MS
[Ad] Endereço:Laboratório de Hematologia e Genética Computacional, Instituto Gonçalo Moniz - IGM, Rua Waldemar Falcão, 121, Candeal - Salvador/BA, CEP: 40296-710, Bahia, Brazil.
[Ti] Título:Association of classical markers and establishment of the dyslipidemic sub-phenotype of sickle cell anemia.
[So] Source:Lipids Health Dis;16(1):74, 2017 Apr 11.
[Is] ISSN:1476-511X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Sickle cell anemia (SCA) patients exhibit sub-phenotypes associated to hemolysis and vaso-occlusion. The disease has a chronic inflammatory nature that has been also associated to alterations in the lipid profile. This study aims to analyze hematological and biochemical parameters to provide knowledge about the SCA sub-phenotypes previously described and suggest a dyslipidemic sub-phenotype. METHODS: A cross-sectional study was conducted from 2013 to 2014, and 99 SCA patients in steady state were enrolled. We assessed correlations and associations with hematological and biochemical data and investigated the co-inheritance of -α -thalassemia (-α -thal). Correlation analyses were performed using Spearman and Pearson coefficient. The median of quantitative variables between two groups was compared using t-test and Mann-Whitney. P-values <0.05 were considered statistically significant. RESULTS: We found significant association of high lactate dehydrogenase levels with decreased red blood cell count and hematocrit as well as high levels of total and indirect bilirubin. SCA patients with low nitric oxide metabolites had high total cholesterol, high-density lipoprotein cholesterol, and low-density lipoprotein cholesterol and reduced very low-density cholesterol, triglycerides, direct bilirubin level and reticulocyte counts. In SCA patients with high-density lipoprotein cholesterol greater than 40 mg/dL, we observed increased red blood cell count, hemoglobin, hematocrit, and fetal hemoglobin and decreased nitric oxide metabolites levels. The presence of -α -thal was associated with high red blood cell count and low mean corpuscular volume, mean corpuscular hemoglobin, platelet count and total and indirect bilirubin levels. CONCLUSIONS: Our results provide additional information about the association between biomarkers and co-inheritance of -α -thal in SCA, and suggest the role of dyslipidemia and nitric oxide metabolites in the characterization of this sub-phenotype.
[Mh] Termos MeSH primário: Anemia Falciforme/fisiopatologia
Dislipidemias/etiologia
[Mh] Termos MeSH secundário: Anemia Falciforme/sangue
Anemia Falciforme/complicações
Anemia Falciforme/genética
Bilirrubina/sangue
Biomarcadores/sangue
Brasil
Estudos Transversais
Contagem de Eritrócitos
Índices de Eritrócitos
Deleção de Genes
Hematócrito
Hemoglobina H/genética
Heterozigoto
Homozigoto
Seres Humanos
L-Lactato Desidrogenase/sangue
Lipídeos/sangue
Óxido Nítrico/sangue
Contagem de Plaquetas
Talassemia alfa/complicações
Talassemia alfa/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (Lipids); 31C4KY9ESH (Nitric Oxide); 9034-79-1 (Hemoglobin H); EC 1.1.1.27 (L-Lactate Dehydrogenase); RFM9X3LJ49 (Bilirubin)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170726
[Lr] Data última revisão:
170726
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170413
[St] Status:MEDLINE
[do] DOI:10.1186/s12944-017-0454-1


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[PMID]:27241645
[Au] Autor:Pharephan S; Sirivatanapa P; Makonkawkeyoon S; Tuntiwechapikul W; Makonkawkeyoon L
[Ad] Endereço:Department of Biochemistry, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
[Ti] Título:Prevalence of α-thalassaemia genotypes in pregnant women in northern Thailand.
[So] Source:Indian J Med Res;143(3):315-22, 2016 Mar.
[Is] ISSN:0971-5916
[Cp] País de publicação:India
[La] Idioma:eng
[Ab] Resumo:BACKGROUND & OBJECTIVES: Alpha-thalassaemias are genetic disorders with high prevalence in northern Thailand. However, common genotypes and current data on the prevalence of α-thalassaemias have not been reported in this region. Therefore, the objective of the present study was to determine the prevalence of α-thalassaemia genotypes in pregnant women in northern Thailand. METHODS: Genomic DNA was extracted from blood samples of pregnant women who came to Maharaj Nakorn Chiang Mai University Hospital during July 2009 to 2010. The common deletion and point mutation genotypes of α-thalassaemia were evaluated by gap- polymerase chain reaction (PCR) and PCR with restriction fragment length polymorphism (RFLP). RESULTS: Genotypes of 638 pregnant women were: 409 samples (64.11%) being normal subjects (αα/αα) and 229 samples (35.89%) with α-thalassaemias. these 229 samples could be classified into deletional HbH disease (--SEA/-α3.7) for 18 samples (2.82%); heterozygous α0-thalassaemia --SEA type (--SEA/αα)) for 78 (12.23%); heterozygous α+-thalassaemia - α3.7 type (-α3.7/αα) for 99 (15.52%); homozygous α+-thalassaemia - α3.7 type (-α3.7/- α3.7) for five (0.78%); heterozygous α+-thalassaemia - α4.2 type (-α4.2/αα) for two (0.31%); and heterozygous HbCS (αCSα/αα) for 27 (4.23%) cases. INTERPRETATION & CONCLUSIONS: The prevalence of α-thalassaemias in pregnant women in northern Thailand was high. This finding supports the implementation of the prevention and control of this common genetic disorder by screening for α-thalassaemia genotypes.
[Mh] Termos MeSH primário: Hemoglobina H/genética
Hemoglobinas Anormais/genética
Talassemia alfa/genética
[Mh] Termos MeSH secundário: Adulto
Feminino
Genótipo
Heterozigoto
Seres Humanos
Mutação Puntual/genética
Gravidez
Deleção de Sequência/genética
Tailândia/epidemiologia
Talassemia alfa/sangue
Talassemia alfa/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hemoglobins, Abnormal); 9034-79-1 (Hemoglobin H); 9066-22-2 (Hemoglobin Constant Spring)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160601
[St] Status:MEDLINE
[do] DOI:10.4103/0971-5916.182622


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[PMID]:26984456
[Au] Autor:Pang W; Sun L; Long J; Weng X; Ye X; Wang J; Liao Y; Tang W; Fan Z; Wu S; Song C; Wei X; Zhang C
[Ad] Endereço:a Laboratory of Medical Genetics , Qinzhou Maternal and Child Health Care Hospital , Qinzhou , Guangxi , People's Republic of China.
[Ti] Título:Identification of the -α(2.4) Deletion in One Family and in One Hb H Disease Patient in Guangxi, People's Republic of China.
[So] Source:Hemoglobin;40(3):194-7, 2016 Jun.
[Is] ISSN:1532-432X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The 2.4 kb (or -α(2.4)) deletion in the α-globin gene cluster (NG_000006.1) is an α(+)-thalassemia (α(+)-thal) allele. The molecular basis of -α(2.4) is a deletion from 36860 to 39251 of the α-globin gene cluster. It was reported by three research groups in 2005, 2012 and 2014, respectively. In routine thalassemia screening studies by this research group, we found an individual with the -α(2.4)/αα genotype and an Hb H (ß4) disease patient whose genotype was - -(SEA)/-α(2.4). Samples from the parents of the carrier of the -α(2.4)/αα genotype were collected to perform pedigree analysis, and the proband's mother's genotype was diagnosed to be - -(SEA)/-α(2.4). The research revealed that the -α(2.4) allele exists in the population of southern Guangxi, People's Republic of China.
[Mh] Termos MeSH primário: Hemoglobina H/genética
Deleção de Sequência
alfa-Globinas/genética
[Mh] Termos MeSH secundário: Alelos
China/epidemiologia
Feminino
Genótipo
Hemoglobinas Anormais/genética
Seres Humanos
Masculino
Epidemiologia Molecular
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hemoglobins, Abnormal); 0 (alpha-Globins); 9034-79-1 (Hemoglobin H)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170203
[Lr] Data última revisão:
170203
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160318
[St] Status:MEDLINE
[do] DOI:10.3109/03630269.2016.1153486


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[PMID]:26751898
[Au] Autor:Li Q; Tang J; Ju Y
[Ti] Título:Effect of Hb H on HbA1c measurements as measured by IFCC reference method and affinity HPLC.
[So] Source:Clin Chem Lab Med;54(8):e231-3, 2016 Aug 01.
[Is] ISSN:1437-4331
[Cp] País de publicação:Germany
[La] Idioma:eng
[Mh] Termos MeSH primário: Hemoglobina A Glicada/análise
Hemoglobina H/análise
[Mh] Termos MeSH secundário: Cromatografia Líquida de Alta Pressão/normas
Eletroforese
Genótipo
Hemoglobina A Glicada/genética
Hemoglobina H/genética
Seres Humanos
Valores de Referência
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Glycated Hemoglobin A); 0 (hemoglobin A1c protein, human); 9034-79-1 (Hemoglobin H)
[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:160112
[St] Status:MEDLINE


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[PMID]:26575104
[Au] Autor:Surapolchai P; Sirachainan N; So CC; Hongeng S; Pakakasama S; Anurathapan U; Chuansumrit A
[Ad] Endereço:a Department of Pediatrics , Faculty of Medicine, Thammasat University , Pathumthani , Thailand .
[Ti] Título:Curative Stem Cell Transplantation for Severe Hb H Disease Manifesting From Early Infancy: Phenotypic and Genotypic Analyses.
[So] Source:Hemoglobin;40(1):70-3, 2016.
[Is] ISSN:1532-432X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Most people with Hb H disease live normal lives; however, a minority of cases requires lifelong regular transfusions. An atypical form of nondeletional Hb H disease was reported in a Thai boy, characterized by severe persistent hemolytic anemia since the age of 2 months. Molecular diagnosis revealed the apparent compound heterozygosity for the Southeast Asian (- -(SEA)) and α2 polyadenylation (polyA) signal (AATAAA>AATA- -) deletions. The proband was successfully treated with allogeneic hematopoietic stem cell transplantation (HSCT). Accurate phenotypic and genotypic diagnosis in atypically severe Hb H disease is helpful for the understanding of its pathophysiology, the institution of appropriate management, and provision of genetic counseling and prenatal diagnosis. Hematopoietic stem cell transplantation is a potentially curative treatment option for this severe α-thalassemia (α-thal) syndrome.
[Mh] Termos MeSH primário: Hemoglobina H/genética
Transplante de Células-Tronco
Talassemia alfa/genética
Talassemia alfa/terapia
[Mh] Termos MeSH secundário: Genótipo
Heterozigoto
Seres Humanos
Lactente
Masculino
Poliadenilação
Deleção de Sequência
Transplante Homólogo
Talassemia alfa/diagnóstico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
9034-79-1 (Hemoglobin H)
[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:151118
[St] Status:MEDLINE
[do] DOI:10.3109/03630269.2015.1105815


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[PMID]:26460264
[Au] Autor:Farashi S; Najmabadi H
[Ad] Endereço:Genetics Research Center, University of Social Welfare & Rehabilitation Sciences, Tehran, Iran; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
[Ti] Título:Diagnostic pitfalls of less well recognized HbH disease.
[So] Source:Blood Cells Mol Dis;55(4):387-95, 2015 Dec.
[Is] ISSN:1096-0961
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:HbH disease had been introduced as a mild anemia disease. It recently has become the most challenging hemoglobinopathy due to the increasingly described genotype patterns and very variable phenotypic presentations in different ethnics. Phenotypic severity of HbH syndrome is not simply related to the degree of α-globin deficiency and being influenced by several environmental and/or genetic factors. Hence, more investigation needs to identify factors like other genetic loci linked and/or unlinked to the α-globin genes affecting molecular mechanisms that influence clinical expression of HbH disease. Altogether, the complicated pathophysiology of HbH disease makes it to be known as a poorly understood syndrome. It may offer the hypothesis that it is a multifactorial disease, which needs to be investigated by more comprehensive genetic approach like genome wide association studies (GWAS) looking for genetic variants. Moreover, extended haplotype analysis to find out probable specific association between haplotypes of modifier genes and disease severity in patients with a specific HbH genotype may be a key point. In this review, we aim to provide important information regarding phenotypic presentation of different genotypes that have been described worldwide. It may help geneticists regarding challenging health care aspects of HbH disease in a specific ethnic.
[Mh] Termos MeSH primário: Talassemia alfa/diagnóstico
[Mh] Termos MeSH secundário: Terapia Combinada
Gerenciamento Clínico
Estudos de Associação Genética
Aconselhamento Genético
Variação Genética
Genótipo
Hemoglobina H/genética
Hemoglobinas Anormais/genética
Seres Humanos
Mutação
Fenótipo
Diagnóstico Pré-Natal
Síndrome
alfa-Globinas/genética
Talassemia alfa/genética
Talassemia alfa/terapia
Talassemia beta/diagnóstico
Talassemia beta/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Hemoglobins, Abnormal); 0 (alpha-Globins); 9034-79-1 (Hemoglobin H)
[Em] Mês de entrada:1607
[Cu] Atualização por classe:151013
[Lr] Data última revisão:
151013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151014
[St] Status:MEDLINE


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[PMID]:26412168
[Au] Autor:He S; Zhang Q; Chen BY; Huang P; Tang YQ; Wei Y; Chen QL; Zheng CG
[Ad] Endereço:Department of Genetic Metabolism, Maternal and Children Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China. piger561220881@163.com.
[Ti] Título:[Genotypes and clinical features of 595 children with HbH disease in Guangxi, China].
[So] Source:Zhongguo Dang Dai Er Ke Za Zhi;17(9):908-11, 2015 Sep.
[Is] ISSN:1008-8830
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To investigate the genotypes and clinical features of children with HbH disease in Guangxi Zhuang Autonomous Region, China. METHODS: A total of 595 children from Guangxi were recruited. Single-tube multiplex polymerase chain reaction combined with agarose gel electrophoresis, as well as reverse dot blotting, were performed to detect the three α-globin gene deletion mutations (--(SEA), -α(3.7), and -α(4.2)) and three non-deletion mutations (Hb Westmead, Hb Constant Spring, and Hb Quong Sze) which are common in the Chinese population. RESULTS: Among the 595 cases, five common genotypes were identified, which were --(SEA)/-α(3.7) (232 cases), --(SEA)/α(CS)α (174 cases), --(SEA)/-α(4.2) (122 cases), --(SEA)/α(WS)α (35 cases), and --(SEA)/α(QS)α (24 cases). The genotype of THAI deletion associated with α-thalassemia-2 was detected in eight cases. Six ß-mutations including CD41-42, CD17-28, CD26, IVS-II-654, IVS-I-1, and CD27-28 were identified in 23 cases. All children with HbH disease had microcytic hypochromic anemia; children with HbH-CS disease had the most severe anemia, and those with HbH-WS disease had the mildest anemia. CONCLUSIONS: Deletional HbH disease is the main type in children with HbH disease in Guangxi, and some patients also have mild beta-thalassemia. Non-deletional HbH disease shows more severe phenotype than deletional HbH disease.
[Mh] Termos MeSH primário: Hemoglobina H/genética
Talassemia alfa/genética
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Feminino
Genótipo
Seres Humanos
Lactente
Masculino
Reação em Cadeia da Polimerase Multiplex
[Pt] Tipo de publicação:ENGLISH ABSTRACT; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
9034-79-1 (Hemoglobin H)
[Em] Mês de entrada:1602
[Cu] Atualização por classe:150928
[Lr] Data última revisão:
150928
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150929
[St] Status:MEDLINE


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[PMID]:26316481
[Au] Autor:Ünal S; Gümrük F
[Ad] Endereço:Hacettepe University Faculty of Medicine, Division of Pediatric Hematology, Ankara, Turkey Phone: +90 532 526 37 49 E-mail: suleunal@hacettepe.edu.tr.
[Ti] Título:The Hematological and Molecular Spectrum of α-Thalassemias in Turkey: The Hacettepe Experience.
[So] Source:Turk J Haematol;32(2):136-43, 2015 Jun.
[Is] ISSN:1308-5263
[Cp] País de publicação:Turkey
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: The spectrum of α-thalassemias correlates well with the number of affected α-globin genes. Additionally, combinations of the several non-deletional types of mutations with a large trans deletion comprising the 2 α-globin genes have an impact on the clinical severity. The objective of this study was to analyze the hematological and molecular data of 35 patients with Hb H disease from a single center in order to identify the genotypes of Hb H disease and genotype-phenotype correlations. MATERIALS AND METHODS: Herein, we report the hematological and mutational spectrum of patients with Hb H disease (n=35). Additionally, genotypes of α-gene mutations of 78 individuals, who were referred to our institution for α-gene screening, were analyzed. RESULTS: Supporting the previous data from Turkey, -α3.7 was the most common mutation among patients with Hb H disease (62.8%) and in the other 78 subjects (39.7%). Of the patients with Hb H disease, the most common genotypes were -α3.7/--20.5, -α3.7/--26.5, and -α3.7/--17.5 in 10 (28.6%), 6 (17.1%), and 6 (17.1%) patients, respectively. Another small deletion, -4.2 alpha, and several non-deletional types of α-gene mutations, namely α (-5nt): IVS-I donor site (GAG.GTG.AGG->GAG.G-----); α (PA-2): AATAAA>AATGGA, and α (cd59): GGC->GAC, were found to be associated with Hb H disease when present at trans loci of one of the large deletions given above. The combinations consisting of 1 non-deletional and 1 of the large deletional types of mutations (αTα/--) at trans loci were found to result in a more severe phenotype compared to the genotypes composed of 1 small trans deletion of a large deletion (-α/--). The combination of α (Cd59) and -- in trans was associated with severe phenotype and the disease was associated with an increase in Hb Bart's level with null Hb H. In spite of the presence of 2 intact α-globin genes, homozygosity for PA-2 mutation resulted in severe Hb H disease. CONCLUSION: This study indicated that Hb H disease is not rare in Turkey and its genotype is quite heterogeneous.
[Mh] Termos MeSH primário: alfa-Globinas/genética
Talassemia alfa/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
Índices de Eritrócitos
Deleção de Genes
Frequência do Gene
Estudos de Associação Genética
Genótipo
Hemoglobina H/genética
Hemoglobinas Anormais/genética
Seres Humanos
Lactente
Meia-Idade
Mutação
Mutação de Sentido Incorreto
Deleção de Sequência
Turquia/epidemiologia
Adulto Jovem
Talassemia alfa/sangue
Talassemia alfa/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hemoglobins, Abnormal); 0 (alpha-Globins); 9034-79-1 (Hemoglobin H); 9056-09-1 (hemoglobin Bart's)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170123
[Lr] Data última revisão:
170123
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150829
[St] Status:MEDLINE
[do] DOI:10.4274/tjh.2014.0200


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[PMID]:26193977
[Au] Autor:Farashi S; Garous NF; Ashki M; Vakili S; Zeinali F; Imanian H; Azarkeivan A; Giordano PC; Najmabadi H
[Ad] Endereço:a Kariminejad-Najmabadi Pathology & Genetics Center , Tehran , Iran.
[Ti] Título:Homozygosity for the AATAAA > AATA- - Polyadenylation Site Mutation on the α2-Globin Gene Causing Transfusion-Dependent Hb H Disease in an Iranian Patient: A Case Report.
[So] Source:Hemoglobin;39(5):355-8, 2015.
[Is] ISSN:1532-432X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:We describe a case of Hb H disease associated with homozygosity for a two nucleotide deletion in the polyadenylation signal of the α2-globin gene (HBA2: c.*93_*94delAA). The patient, a 27-year-old son of a consanguineous couple, needs regular blood transfusions every 6 months.
[Mh] Termos MeSH primário: Homozigoto
Mutação
Poli A
Poliadenilação/genética
RNA Mensageiro/genética
alfa-Globinas/genética
Talassemia alfa/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Transfusão de Sangue
Análise Mutacional de DNA
Índices de Eritrócitos
Feminino
Hemoglobina H/genética
Seres Humanos
Irã (Geográfico)
Masculino
Meia-Idade
RNA Mensageiro/química
Talassemia alfa/diagnóstico
Talassemia alfa/terapia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (RNA, Messenger); 0 (alpha-Globins); 24937-83-5 (Poly A); 9034-79-1 (Hemoglobin H)
[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:150722
[St] Status:MEDLINE
[do] DOI:10.3109/03630269.2015.1059850


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[PMID]:26114741
[Au] Autor:Brieghel C; Birgens H; Frederiksen H; Hertz JM; Steenhof M; Petersen J
[Ad] Endereço:a Center for Haemoglobinopathies, Department of Haematology, Copenhagen University Hospital , Herlev , Denmark.
[Ti] Título:Novel 31.2 kb α0 Deletion in a Palestinian Family with α-Thalassemia.
[So] Source:Hemoglobin;39(5):346-9, 2015.
[Is] ISSN:1532-432X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:A previously unknown α(0) deletion, designated - -(DANE), was found in three generations of a Danish family of Palestinian origin. Six patients were heterozygous and three patients had deletional Hb H (ß4) disease with a compound heterozygosity for the common -α(3.7) (rightward) deletion. Multiplex ligation-dependent probe amplification (MLPA) supplemented by repeated polymerase chain reaction (PCR) amplification identified the 5' and 3' breakpoints in the α-globin gene cluster. This novel 31.2 kb deletion (NG_000006.1: g.8800_40007del31208) leads to the removal of the HBZ, HBA2 and HBA1 genes.
[Mh] Termos MeSH primário: Árabes/genética
Deleção de Sequência
alfa-Globinas/genética
Talassemia alfa/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
Consanguinidade
Índices de Eritrócitos
Feminino
Ordem dos Genes
Loci Gênicos
Genótipo
Hemoglobina H/genética
Hemoglobina H/metabolismo
Seres Humanos
Masculino
Meia-Idade
Linhagem
Fenótipo
Adulto Jovem
Talassemia alfa/sangue
Talassemia alfa/diagnóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (alpha-Globins); 9034-79-1 (Hemoglobin H)
[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:150627
[St] Status:MEDLINE
[do] DOI:10.3109/03630269.2015.1054512



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