Base de dados : MEDLINE
Pesquisa : C15.378.071.141.150 [Categoria DeCS]
Referências encontradas : 1586 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 159 ir para página                         

  1 / 1586 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28716860
[Au] Autor:Glogowska E; Schneider ER; Maksimova Y; Schulz VP; Lezon-Geyda K; Wu J; Radhakrishnan K; Keel SB; Mahoney D; Freidmann AM; Altura RA; Gracheva EO; Bagriantsev SN; Kalfa TA; Gallagher PG
[Ad] Endereço:Department of Pediatrics and.
[Ti] Título:Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis.
[So] Source:Blood;130(16):1845-1856, 2017 Oct 19.
[Is] ISSN:1528-0020
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mutations in PIEZO1 are the primary cause of hereditary xerocytosis, a clinically heterogeneous, dominantly inherited disorder of erythrocyte dehydration. We used next-generation sequencing-based techniques to identify mutations in individuals from 9 kindreds referred with suspected hereditary xerocytosis (HX) and/or undiagnosed congenital hemolytic anemia. Mutations were primarily found in the highly conserved, COOH-terminal pore-region domain. Several mutations were novel and demonstrated ethnic specificity. We characterized these mutations using genomic-, bioinformatic-, cell biology-, and physiology-based functional assays. For these studies, we created a novel, cell-based in vivo system for study of wild-type and variant PIEZO1 membrane protein expression, trafficking, and electrophysiology in a rigorous manner. Previous reports have indicated HX-associated PIEZO1 variants exhibit a partial gain-of-function phenotype with generation of mechanically activated currents that inactivate more slowly than wild type, indicating that increased cation permeability may lead to dehydration of PIEZO1-mutant HX erythrocytes. In addition to delayed channel inactivation, we found additional alterations in mutant PIEZO1 channel kinetics, differences in response to osmotic stress, and altered membrane protein trafficking, predicting variant alleles that worsen or ameliorate erythrocyte hydration. These results extend the genetic heterogeneity observed in HX and indicate that various pathophysiologic mechanisms contribute to the HX phenotype.
[Mh] Termos MeSH primário: Anemia Hemolítica Congênita/genética
Hidropisia Fetal/genética
Canais Iônicos/genética
[Mh] Termos MeSH secundário: Adulto
Anemia Hemolítica Congênita/metabolismo
Criança
Estudos de Coortes
Análise Mutacional de DNA
Desidratação/genética
Desidratação/metabolismo
Eritrócitos/metabolismo
Família
Feminino
Células HEK293
Seres Humanos
Hidropisia Fetal/metabolismo
Mutação INDEL
Recém-Nascido
Canais Iônicos/metabolismo
Cinética
Masculino
Mutação de Sentido Incorreto
Pressão Osmótica/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Ion Channels); 0 (PIEZO1 protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171104
[Lr] Data última revisão:
171104
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170719
[St] Status:MEDLINE
[do] DOI:10.1182/blood-2017-05-786004


  2 / 1586 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28600963
[Au] Autor:Park CM; Lee K; Jun SH; Song SH; Song J
[Ad] Endereço:Department of Laboratory Medicine, Dongnam Institutes of Radiology and Medical Sciences, Busan, South Korea.
[Ti] Título:Ultra-performance liquid chromatography-tandem mass spectrometry-based multiplex enzyme assay for six enzymes associated with hereditary hemolytic anemia.
[So] Source:J Chromatogr B Analyt Technol Biomed Life Sci;1060:76-83, 2017 Aug 15.
[Is] ISSN:1873-376X
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Deficiencies in erythrocyte metabolic enzymes are associated with hereditary hemolytic anemia. Here, we report the development of a novel multiplex enzyme assay for six major enzymes, namely glucose-6-phosphate dehydrogenase, pyruvate kinase, pyrimidine 5'-nucleotidase, hexokinase, triosephosphate isomerase, and adenosine deaminase, deficiencies in which are implicated in erythrocyte enzymopathies. To overcome the drawbacks of traditional spectrophotometric enzyme assays, the present assay was based on ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS). The products of the six enzymes were directly measured by using ion pairing UPLC-MS/MS, and the precision, linearity, ion suppression, optimal sample amounts, and incubation times were evaluated. Eighty-three normal individuals and 13 patients with suspected enzymopathy were analyzed. The UPLC running time was within 5min. No ion suppression was observed at the retention time for the products or internal standards. We selected an optimal dilution factor and incubation time for each enzyme system. The intra- and inter-assay imprecision values (CVs) were 2.5-12.1% and 2.9-14.3%, respectively. The linearity of each system was good, with R values >0.97. Patient samples showed consistently lower enzyme activities than those from normal individuals. The present ion paring UPLC-MS/MS assay enables facile and reproducible multiplex evaluation of the activity of enzymes implicated in enzymopathy-associated hemolytic anemia.
[Mh] Termos MeSH primário: Anemia Hemolítica Congênita/enzimologia
Cromatografia Líquida de Alta Pressão/métodos
Ensaios Enzimáticos/métodos
Espectrometria de Massas em Tandem/métodos
[Mh] Termos MeSH secundário: 5'-Nucleotidase/análise
5'-Nucleotidase/metabolismo
Difosfato de Adenosina/análise
Difosfato de Adenosina/metabolismo
Glucosefosfato Desidrogenase/análise
Glucosefosfato Desidrogenase/metabolismo
Seres Humanos
Modelos Lineares
NADP/análise
NADP/metabolismo
Piruvato Quinase/análise
Piruvato Quinase/metabolismo
Reprodutibilidade dos Testes
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
53-59-8 (NADP); 61D2G4IYVH (Adenosine Diphosphate); EC 1.1.1.49 (Glucosephosphate Dehydrogenase); EC 2.7.1.40 (Pyruvate Kinase); EC 3.1.3.5 (5'-Nucleotidase)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170915
[Lr] Data última revisão:
170915
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170611
[St] Status:MEDLINE


  3 / 1586 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28189176
[Au] Autor:Haley K
[Ad] Endereço:Department of Pediatrics, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, 3181 Southwest Sam Jackson Park Road, Mail Code CDRCP, Portland, OR 97239, USA. Electronic address: haley@ohsu.edu.
[Ti] Título:Congenital Hemolytic Anemia.
[So] Source:Med Clin North Am;101(2):361-374, 2017 Mar.
[Is] ISSN:1557-9859
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Red blood cell (RBC) destruction can be secondary to intrinsic disorders of the RBC or to extrinsic causes. In the congenital hemolytic anemias, intrinsic RBC enzyme, RBC membrane, and hemoglobin disorders result in hemolysis. The typical clinical presentation is a patient with pallor, anemia, jaundice, and often splenomegaly. The laboratory features include anemia, hyperbilirubinemia, and reticulocytosis. For some congenital hemolytic anemias, splenectomy is curative. However, in other diseases, avoidance of drugs and toxins is the best therapy. Supportive care with transfusions are also mainstays of therapy. Chronic hemolysis often results in the formation of gallstones, and cholecystectomy is often indicated.
[Mh] Termos MeSH primário: Anemia Hemolítica Congênita/fisiopatologia
Anemia Hemolítica Congênita/terapia
[Mh] Termos MeSH secundário: Anemia Hemolítica Congênita/diagnóstico
Anemia Hemolítica Congênita não Esferocítica/diagnóstico
Anemia Hemolítica Congênita não Esferocítica/terapia
Membrana Eritrocítica/metabolismo
Deficiência de Glucosefosfato Desidrogenase/diagnóstico
Deficiência de Glucosefosfato Desidrogenase/terapia
Testes Hematológicos
Hemoglobinopatias/diagnóstico
Hemoglobinopatias/terapia
Seres Humanos
Piruvato Quinase/deficiência
Erros Inatos do Metabolismo dos Piruvatos/diagnóstico
Erros Inatos do Metabolismo dos Piruvatos/terapia
Índice de Gravidade de Doença
Esplenectomia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 2.7.1.40 (Pyruvate Kinase)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170315
[Lr] Data última revisão:
170315
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170213
[St] Status:MEDLINE


  4 / 1586 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28121068
[Au] Autor:Yang E; Voelkel EB; Lezon-Geyda K; Schulz VP; Gallagher PG
[Ad] Endereço:Department of Pediatrics, George Washington University School of Medicine, Washington, District of Columbia.
[Ti] Título:Hemoglobin C trait accentuates erythrocyte dehydration in hereditary xerocytosis.
[So] Source:Pediatr Blood Cancer;64(8), 2017 Aug.
[Is] ISSN:1545-5017
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A 17-year-old male presented with acute hemolysis with stomatocytosis, elevated mean corpuscular hemoglobin concentration (MCHC), and osmotic gradient ektacytometry consistent with marked erythrocyte dehydration. Erythrocytes from both parents also demonstrated evidence of dehydration with elevated MCHC and abnormal ektacytometry, but neither to the degree of the patient. Genetic studies revealed the patient had hereditary xerocytosis (HX) due to a novel PIEZO1 mutation inherited from his mother and hemoglobin C (HbC) trait inherited from his father. HbC trait accentuated the erythrocyte dehydration of HX. Coinheritance of interrelated disorders and/or modifier alleles should be considered whenever severe erythrocyte dehydration is observed.
[Mh] Termos MeSH primário: Anemia Hemolítica Congênita/complicações
Anemia Hemolítica Congênita/genética
Eritrócitos/patologia
Doença da Hemoglobina C/complicações
Doença da Hemoglobina C/genética
Hidropisia Fetal/genética
[Mh] Termos MeSH secundário: Adolescente
Anemia Hemolítica Congênita/sangue
Índices de Eritrócitos
Doença da Hemoglobina C/sangue
Seres Humanos
Hidropisia Fetal/sangue
Canais Iônicos/genética
Masculino
Mutação
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Ion Channels); 0 (PIEZO1 protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170914
[Lr] Data última revisão:
170914
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170126
[St] Status:MEDLINE
[do] DOI:10.1002/pbc.26444


  5 / 1586 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
[PMID]:28304246
[Au] Autor:Miyashiro SI; Massironi SM; Mori CM; Cruz CC; Hagiwara MK; Maiorka PC
[Ad] Endereço:Medical Clinic Institute of Biomedical Science, University of São Paulo, São Paulo, Brazil.
[Ti] Título:A Mouse Model for Human Unstable Hemoglobin Santa Ana.
[So] Source:Comp Med;66(6):437-444, 2016 Dec 01.
[Is] ISSN:1532-0820
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:In the present study, we described the phenotype, histologic morphology, and molecular etiology of a mouse model of unstable hemoglobin Santa Ana. Hematologic evaluation of anemic mice (Anem/+) discovered after N-ethyl-N-nitrosourea mutagenesis revealed moderate anemia with intense reticulocytosis and polychromasia, followed by anisocytosis, macrocytosis, hypochromia, and intraerythrocytic inclusion and Heinz bodies. The mice also demonstrated hemoglobinuria, bilirubinemia, and erythrocytic populations with differing resistance to osmotic lysis. Splenomegaly (particularly in older mutant mice) and jaundice were apparent at necropsy. Histopathologic examination revealed dramatically increased hematopoiesis and hemosiderosis in hematopoietic organs and intracellular iron deposition in tubular renal cells. These data are characteristic of a congenital hemolytic regenerative anemia, similar to human anemias due to unstable hemoglobin. Genetic mapping assigned the affected gene to mouse chromosome 7, approximately 50 cM from the Hbb locus. The sequence of the mutant Hbb gene exhibited a T→C transversion at nucleotide 179 in Hbb-b1, leading to the substitution of proline for leucine at amino acid residue 88 and thus homologous to the genetic defect underlying Santa Ana anemia in humans.
[Mh] Termos MeSH primário: Anemia Hemolítica Congênita/sangue
Hemoglobinas Anormais/análise
[Mh] Termos MeSH secundário: Animais
Mapeamento Cromossômico
Modelos Animais de Doenças
Etilnitrosoureia
Feminino
Genótipo
Seres Humanos
Masculino
Camundongos
Camundongos Endogâmicos BALB C
Mutação
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hemoglobins, Abnormal); 37359-24-3 (hemoglobin Santa Ana); P8M1T4190R (Ethylnitrosourea)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171013
[Lr] Data última revisão:
171013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170318
[St] Status:MEDLINE


  6 / 1586 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
[PMID]:27756835
[Au] Autor:Andolfo I; Russo R; Gambale A; Iolascon A
[Ad] Endereço:Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Italy.
[Ti] Título:New insights on hereditary erythrocyte membrane defects.
[So] Source:Haematologica;101(11):1284-1294, 2016 Nov.
[Is] ISSN:1592-8721
[Cp] País de publicação:Italy
[La] Idioma:eng
[Ab] Resumo:After the first proposed model of the red blood cell membrane skeleton 36 years ago, several additional proteins have been discovered during the intervening years, and their relationship with the pathogenesis of the related disorders have been somewhat defined. The knowledge of erythrocyte membrane structure is important because it represents the model for spectrin-based membrane skeletons in all cells and because defects in its structure underlie multiple hemolytic anemias. This review summarizes the main features of erythrocyte membrane disorders, dividing them into structural and altered permeability defects, focusing particularly on the most recent advances. New proteins involved in alterations of the red blood cell membrane permeability were recently described. The mechanoreceptor PIEZO1 is the largest ion channel identified to date, the fundamental regulator of erythrocyte volume homeostasis. Missense, gain-of-function mutations in the PIEZO1 gene have been identified in several families as causative of dehydrated hereditary stomatocytosis or xerocytosis. Similarly, the KCNN4 gene, codifying the so called Gardos channel, has been recently identified as a second causative gene of hereditary xerocytosis. Finally, ABCB6 missense mutations were identified in different pedigrees of familial pseudohyperkalemia. New genomic technologies have improved the quality and reduced the time of diagnosis of these diseases. Moreover, they are essential for the identification of the new causative genes. However, many questions remain to solve, and are currently objects of intensive studies.
[Mh] Termos MeSH primário: Permeabilidade da Membrana Celular
Membrana Eritrocítica/genética
[Mh] Termos MeSH secundário: Anemia Hemolítica Congênita/genética
Permeabilidade da Membrana Celular/genética
Membrana Eritrocítica/patologia
Seres Humanos
Hidropisia Fetal/genética
Hiperpotassemia/congênito
Hiperpotassemia/genética
Esferocitose Hereditária/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170622
[Lr] Data última revisão:
170622
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161102
[St] Status:MEDLINE


  7 / 1586 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
[PMID]:27725587
[Au] Autor:Ohga S
[Ad] Endereço:Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University.
[Ti] Título:Genetic diagnosis for congenital hemolytic anemia.
[So] Source:Rinsho Ketsueki;57(10):1908-1912, 2016.
[Is] ISSN:0485-1439
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:Congenital hemolytic anemia is a group of monogenic diseases presenting with anemia due to increased destruction of circulating erythrocytes. The etiology of inherited anemia accounts for germline mutations of the responsible genes coding for the structural components of erythrocytes and extra-erythrocytes. The erythrocyte abnormalities are classified into three major disorders of red cell membrane defects, hemoglobinopathies, and red cell enzymopathies. The extra-erythrocyte abnormalities, typified by consumption coagulopathy and intravascular hemolysis, include Upshaw-Schulman syndrome and atypical hemolytic uremic syndrome. The clinical manifestations of congenital hemolytic anemia are anemia, jaundice, cholelithiasis and splenomegaly, while the onset mode and severity are both variable. Genetic overlapping of red cell membrane protein disorders, and distinct frequency and mutation spectra differing among races make it difficult to understand this disease entity. On the other hand, genetic modifiers for the phenotype of ß-globin diseases provide useful information for selecting the optimal treatment and for long-term management. Recently, next generation sequencing techniques have enabled us to determine the novel causative genes in patients with undiagnosed hemolytic anemias. We herein review the concept and strategy for genetic diagnosis of inherited hemolytic anemias.
[Mh] Termos MeSH primário: Anemia Hemolítica Congênita/diagnóstico
Anemia Hemolítica Congênita/genética
[Mh] Termos MeSH secundário: Eritrócitos/metabolismo
Eritrócitos/patologia
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1702
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161012
[St] Status:MEDLINE


  8 / 1586 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27555186
[Au] Autor:Costandi AJ; Mahmoud M
[Ad] Endereço:Department of Anesthesiology Critical Care Medicine, Children's Hospital Los Angeles, Keck School of Medicine of USC, Los Angeles, CA, USA. Electronic address: acostandi@chla.usc.edu.
[Ti] Título:Unexpected falsely low pulse oximeter measurements in a child with hemoglobin Southampton.
[So] Source:J Clin Anesth;33:320-1, 2016 Sep.
[Is] ISSN:1873-4529
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Reações Falso-Positivas
Hemoglobinas Anormais/análise
Oximetria/métodos
[Mh] Termos MeSH secundário: Anemia Hemolítica Congênita/cirurgia
Pré-Escolar
Transfusão de Eritrócitos
Feminino
Seres Humanos
Oxigênio/sangue
Esplenectomia
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Nm] Nome de substância:
0 (Hemoglobins, Abnormal); 51142-53-1 (hemoglobin Southampton); S88TT14065 (Oxygen)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170310
[Lr] Data última revisão:
170310
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160825
[St] Status:MEDLINE


  9 / 1586 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27515425
[Au] Autor:Huang Y; Wang M; Yu C; Lei Y; Lai Y; Liu R
[Ad] Endereço:Department of Hematology, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, 530021, People's Republic of China.
[Ti] Título:Clinical presentation of the hemoglobin Youngstown variant in a Chinese family.
[So] Source:Ann Hematol;95(11):1925-7, 2016 Oct.
[Is] ISSN:1432-0584
[Cp] País de publicação:Germany
[La] Idioma:eng
[Mh] Termos MeSH primário: Anemia Hemolítica Congênita/genética
Grupo com Ancestrais do Continente Asiático/genética
Hemoglobinopatias/genética
Hemoglobinas Anormais/genética
Globinas beta/genética
[Mh] Termos MeSH secundário: Adolescente
Anemia Hemolítica Congênita/sangue
Anemia Hemolítica Congênita/complicações
Feminino
Genótipo
Hematopoese Extramedular
Hemoglobinopatias/sangue
Hemoglobinopatias/complicações
Seres Humanos
Sobrecarga de Ferro/diagnóstico por imagem
Sobrecarga de Ferro/etiologia
Imagem por Ressonância Magnética
Masculino
Meia-Idade
[Pt] Tipo de publicação:LETTER
[Nm] Nome de substância:
0 (Hemoglobins, Abnormal); 0 (beta-Globins); 0 (hemoglobin Youngstown)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170207
[Lr] Data última revisão:
170207
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160813
[St] Status:MEDLINE
[do] DOI:10.1007/s00277-016-2763-2


  10 / 1586 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27431078
[Au] Autor:Li JY; Gu HH; Zheng SJ; Zha ZS; Hua MX; Jiang JJ; Cai B; Zhou L; Jia Y; Fang CP; Qian BH
[Ad] Endereço:Department of Transfusion Medicine, Changhai Hospital, PLA Research and Innovation Base of Pediatric Hemolytic Anemia, Shanghai 200433, China.
[Ti] Título:[Application of systematic etiological analysis in final and differential diagnosis of hereditary hemolytic anemia].
[So] Source:Zhonghua Xue Ye Xue Za Zhi;37(6):512-6, 2016 Jun 14.
[Is] ISSN:0253-2727
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: Study on the application of the systematic analysis strategies of etiology in final and differential diagnosis of hereditary hemolytic anemia (HHA). METHODS: Analysis of 1 506 patients with suspected hemolytic anemia (HA) in systematic hemolytic etiological analysis. RESULTS: â‘ 1 413(94%) of the total 1 506 patients [male 799, female 707, median age 22-year-old (4 days to 86-year-old) ]were caused by membranopathy, hemoglobinopathy and enzymopathy, documented the three major causes of HHA. 369 cases (26%) of the 1 413 patients showed complex type of HA, which had the coexistence of two or more hereditary defects concerning HA in red cells, the other 1 044 cases (74%) were HA with single hemolytic cause. â‘¡In 1 044 cases of single HA, hemoglobinopathy, membranopathy and enzymopathy was 22%, 63% and 15%, respectively. When single HA plused complex HA, the hemoglobinopathy, membranopathy and enzymopathy was 29%, 57% and 14% respectively. The difference was not statistically significant (P >0.05). â‘¢ The most common double heterozygosis with different genetic defects was hemoglobinopathy complicated with membranopathy (50%, 184/369). The complex HA was also found in patients with the enzymopathy complicated with membranopathy (18%, 66/369) and with hemoglobinopathy (4%, 13/369). Some of complex HA patients had the same kinds of genetic defects which means double hemoglobinopathies (29 cases, 8% ), membranopathies (57 cases, 15% ) and enzymopathies (9 cases, 2%). Other kinds (11 cases, 3%) of complex HA, anemia and jaundice were seen in HAA patients accompanied with acquired and secondary defects or other system abnormalities. CONCLUSION: The parallel etiologic examination of three major genetic hemolytic diseases can be 94% of patients for classification. The results showed that the first cause of HAA was membranopathy, second hemoglobinopathy and then enzymopathy. Complex hemolysis is not uncommon and single factor analysis alone is not enough to provide scientific basis for diagnosis.
[Mh] Termos MeSH primário: Anemia Hemolítica Congênita/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Criança
Pré-Escolar
Diagnóstico Diferencial
Eritrócitos/patologia
Feminino
Hemoglobinopatias/diagnóstico
Hemólise
Seres Humanos
Lactente
Recém-Nascido
Masculino
Meia-Idade
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170111
[Lr] Data última revisão:
170111
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160720
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0253-2727.2016.06.014



página 1 de 159 ir para página                         
   


Refinar a pesquisa
  Base de dados : MEDLINE Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde