Base de dados : MEDLINE
Pesquisa : C15.378.420 [Categoria DeCS]
Referências encontradas : 3516 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 352 ir para página                         

  1 / 3516 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29389946
[Au] Autor:Okhovat MA; Ziari K; Ranjbaran R; Nikouyan N
[Ad] Endereço:Diagnostic Laboratory Sciences and Technology Research Center, School of Paramedical Sciences, Shiraz University of Medical Sciences, Shiraz, Iran.
[Ti] Título:The effect of histone deacetylase inhibitors on AHSP expression.
[So] Source:PLoS One;13(2):e0189267, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Alpha-hemoglobin stabilizing protein (AHSP) is a molecular chaperone that can reduce the damage caused by excess free α-globin to erythroid cells in patients with impaired ß-globin chain synthesis. We assessed the effect of sodium phenylbutyrate and sodium valproate, two histone deacetylase inhibitors (HDIs) that are being studied for the treatment of hemoglobinopathies, on the expression of AHSP, BCL11A (all isoforms), γ-globin genes (HBG1/2), and some related transcription factors including GATA1, NFE2, EKLF, KLF4, and STAT3. For this purpose, the K562 cell line was cultured for 2, 4, and 6 days in the presence and absence of sodium phenylbutyrate and sodium valproate. Relative real-time qRT-PCR analysis of mRNA levels was performed to determine the effects of the two compounds on gene expression. Expression of all target mRNAs increased significantly (p < 0.05), except for the expression of BCL11A, which was down-regulated (p < 0.05) in the cells treated with both compounds relative to the levels measured for untreated cells. The findings indicated that sodium valproate had a more considerable effect than sodium phenylbutyrate (p < 0.0005) on BCL11A repression and the up-regulation of other studied genes. γ-Globin and AHSP gene expression continuously increased during the culture period in the treated cells, with the highest gene expression observed for 1 mM sodium valproate after 6 days. Both compounds repressed the expression of BCL11A (-XL, -L, -S) and up-regulated GATA1, NFE2, EKLF, KLF4, STAT3, AHSP, and γ-globin genes expression. Moreover, sodium valproate showed a stronger effect on repressing BCL11A and escalating the expression of other target genes. The findings of this in vitro experiment could be considered in selecting drugs for clinical use in patients with ß-hemoglobinopathies.
[Mh] Termos MeSH primário: Proteínas Sanguíneas/metabolismo
Inibidores de Histona Desacetilases/farmacologia
Chaperonas Moleculares/metabolismo
[Mh] Termos MeSH secundário: Regulação da Expressão Gênica/efeitos dos fármacos
Hemoglobinopatias/tratamento farmacológico
Hemoglobinopatias/genética
Inibidores de Histona Desacetilases/uso terapêutico
Seres Humanos
Células K562
Fenilbutiratos/farmacologia
Reação em Cadeia da Polimerase em Tempo Real
Ácido Valproico/farmacologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (AHSP protein, human); 0 (Blood Proteins); 0 (Histone Deacetylase Inhibitors); 0 (Molecular Chaperones); 0 (Phenylbutyrates); 614OI1Z5WI (Valproic Acid); 7WY7YBI87E (4-phenylbutyric acid)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180202
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0189267


  2 / 3516 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29382003
[Au] Autor:Shi H; Wang Z
[Ad] Endereço:MOH Key Lab of Thrombosis and Hemostasis, Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University.
[Ti] Título:Hemoglobin Hornchurch [ß43 (CD2) Glu > Lys; HBB: c.130G > A] in a Chinese boy complicated with thrombocytopenia: A case report and literature review.
[So] Source:Medicine (Baltimore);96(47):e8862, 2017 Nov.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Hemoglobin Hornchurch is regarded as an asymptomatic hemoglobinopathy with no obvious hematological or clinical abnormalities. Recently, we identified hemoglobin Hornchurch in a 13-year-old Chinese boy complicated with thrombocytopenia, which displayed instability in isopropanol precipitation test. PATIENT CONCERNS: In this case report, we reported a Chinese boy with hemoglobin Hornchurch complicated by thrombocytopenia. The patients have been misdiagnosed as aplastic anemia and myelodysplastic syndrome before. DIAGNOSES: Hemolysis tests, high-performance liquid chromatography, and HBB gene sequencing identified the E44K (G>A) mutation. Isopropanol precipitation test showed instability in hemoglobin Hornchurch. INTERVENTIONS: The patient was given immunosuppressive therapy for 3 months. OUTCOMES: His general conditions have improved along with the recovery of the hemogram index. LESSONS: Further research is needed to clarify the relation between structural abnormality and functional properties of hemoglobin Hornchurch. This second case of hemoglobin Hornchurch indicates that there might be more hemoglobin variants or their carriers in the Chinese population.
[Mh] Termos MeSH primário: Hemoglobinopatias/sangue
Hemoglobinopatias/complicações
Hemoglobinas Anormais/análise
Trombocitopenia/etiologia
[Mh] Termos MeSH secundário: Adolescente
Anemia Aplástica/diagnóstico
Seres Humanos
Masculino
Síndromes Mielodisplásicas/diagnóstico
Trombocitopenia/diagnóstico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Hemoglobins, Abnormal); 0 (hemoglobin Hornchurch)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180209
[Lr] Data última revisão:
180209
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180201
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008862


  3 / 3516 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28904678
[Au] Autor:Dahmani F; Benkirane S; Kouzih J; Woumki A; Mamad H; Masrar A
[Ad] Endereço:Équipe de Recherche en Hématologie, Laboratoire d'Hématologie, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Maroc.
[Ti] Título:[Epidemiological profile of hemoglobinopathies: a cross-sectional and descriptive index case study].
[Ti] Título:Profil épidémiologique des hémoglobinopathies: étude transversale descriptive autour du cas index..
[So] Source:Pan Afr Med J;27:150, 2017.
[Is] ISSN:1937-8688
[Cp] País de publicação:Uganda
[La] Idioma:fre
[Ab] Resumo:Hemoglobinopathies are congenital disorders resultimg from hemoglobin abnormalities. Major forms are often severe, their management is difficult and associated with a great psychosocial impact on patients and their families. They are classified as rare diseases and are still insufficiently known by health professionals. This lack of knowledge is at the origin of diagnostic errors, delay in their management and therefore high morbidity and mortality rate for these patients. In 2008, the World Health Organization (WHO) has published data on hemoglobinopathies epidemiology: more than 330.000 cases of hemoglobinopathy occur each year (83% of cases of sickle cell anemia, 17 % of cases of thalassemia). Hemoglobin disorders are responsible for approximately 3.4% of deaths among people under the age of 5. At the global level, approximately 7% of pregnant women would be carriers of a form of thalassemia and 1% of couples are at risk. However, they are relatively frequent in some regions of the globe where consanguineous marriages are common. We conducted a descriptive cross-sectional study based on two surveys, the first in May 2015 and the second in June of the same year. It was performed in the immunization days to deliver pneumococcal vaccine to the index cases and it was aimed to describe the epidemiological features of families at risk of hemoglobinopathies (index case study), whose index cases were treated in the Department of Pediatrics at the Provincial Hospital El Idrisi, Kenitra, Morocco. After having collected the epidemiological data from patients, laboratory tests were performed including: blood count with red blood cells morphological assessment using the MGG assay and automatic numbering of reticulocytes; hemoglobin electrophoresis at alkaline pH (8.8) and then at acid pH (5.4) on agarose gel and densitometric integration. 275 patients had laboratory profiles compatible with hemoglobinopathy. The majority of these patients were born to consanguineous marriages (83.1%) and came from the north regions of Morocco. This family survey allowed to identify families at risk with a high frequency of sickle cell anemia. Our results confirm the existence of hemoglobinopathies variants among Moroccan population.
[Mh] Termos MeSH primário: Anemia Falciforme/epidemiologia
Hemoglobinopatias/epidemiologia
Reticulócitos/metabolismo
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
Consanguinidade
Estudos Transversais
Eletroforese em Gel de Ágar/métodos
Feminino
Seres Humanos
Concentração de Íons de Hidrogênio
Lactente
Masculino
Meia-Idade
Marrocos/epidemiologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170915
[St] Status:MEDLINE
[do] DOI:10.11604/pamj.2017.27.150.11477


  4 / 3516 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28895851
[Au] Autor:Ferrari G; Cavazzana M; Mavilio F
[Ad] Endereço:San Raffaele-Telethon Institute for Gene Therapy (SR-TIGET), Istituto Scientifico Ospedale San Raffaele, Via Olgettina 58, Milan 20132, Italy; Vita-Salute San Raffaele University, Milan, Italy.
[Ti] Título:Gene Therapy Approaches to Hemoglobinopathies.
[So] Source:Hematol Oncol Clin North Am;31(5):835-852, 2017 Oct.
[Is] ISSN:1558-1977
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Gene therapy for hemoglobinopathies is currently based on transplantation of autologous hematopoietic stem cells genetically modified with a lentiviral vector expressing a globin gene under the control of globin transcriptional regulatory elements. Preclinical and early clinical studies showed the safety and potential efficacy of this therapeutic approach as well as the hurdles still limiting its general application. In addition, for both beta-thalassemia and sickle cell disease, an altered bone marrow microenvironment reduces the efficiency of stem cell harvesting as well as engraftment. These hurdles need be addressed for gene therapy for hemoglobinopathies to become a clinical reality.
[Mh] Termos MeSH primário: Terapia Genética
Hemoglobinopatias/genética
Hemoglobinopatias/terapia
[Mh] Termos MeSH secundário: Anemia Falciforme/genética
Anemia Falciforme/terapia
Animais
Ensaios Clínicos como Assunto
Avaliação Pré-Clínica de Medicamentos
Expressão Gênica
Técnicas de Transferência de Genes
Terapia Genética/efeitos adversos
Terapia Genética/métodos
Vetores Genéticos/genética
Transplante de Células-Tronco Hematopoéticas
Células-Tronco Hematopoéticas/citologia
Células-Tronco Hematopoéticas/metabolismo
Hemoglobinas/genética
Seres Humanos
Transdução Genética
Talassemia beta/genética
Talassemia beta/terapia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Hemoglobins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171009
[Lr] Data última revisão:
171009
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170913
[St] Status:MEDLINE


  5 / 3516 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28895849
[Au] Autor:Cowan MJ; Dvorak CC; Long-Boyle J
[Ad] Endereço:Pediatric Allergy Immunology and Blood and Marrow Transplant Division, UCSF Benioff Children's Hospital, 550 16th Street, Floor 4, San Francisco, CA 94143-0434, USA. Electronic address: mort.cowan@ucsf.edu.
[Ti] Título:Opening Marrow Niches in Patients Undergoing Autologous Hematopoietic Stem Cell Gene Therapy.
[So] Source:Hematol Oncol Clin North Am;31(5):809-822, 2017 Oct.
[Is] ISSN:1558-1977
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Successful gene therapy for genetic disorders requires marrow niches to be opened to varying degrees to engraft gene-corrected hematopoietic stem cells (HSC). For example, in severe combined immunodeficiency, relatively limited chimerism is necessary for both T- and B-cell immune reconstitution, whereas for inborn errors of metabolism maximal donor chimerism is the goal. Currently, alkylating chemotherapy is used for this purpose. Significant pharmacokinetic variability exists in drug clearance in children less than 12 years old. Thus, pharmacokinetic monitoring is needed to achieve the targeted exposure goal for busulfan.
[Mh] Termos MeSH primário: Medula Óssea/metabolismo
Terapia Genética
Transplante de Células-Tronco Hematopoéticas
Células-Tronco Hematopoéticas/metabolismo
Nicho de Células-Tronco
[Mh] Termos MeSH secundário: Animais
Antineoplásicos/farmacologia
Expressão Gênica
Técnicas de Transferência de Genes
Terapia Genética/métodos
Células-Tronco Hematopoéticas/citologia
Células-Tronco Hematopoéticas/efeitos dos fármacos
Hemoglobinopatias/genética
Hemoglobinopatias/terapia
Seres Humanos
Erros Inatos do Metabolismo/genética
Erros Inatos do Metabolismo/terapia
Imunodeficiência Combinada Severa/genética
Imunodeficiência Combinada Severa/terapia
Transdução Genética
Transgenes
Condicionamento Pré-Transplante
Transplante Autólogo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Antineoplastic Agents)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171009
[Lr] Data última revisão:
171009
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170913
[St] Status:MEDLINE


  6 / 3516 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28787394
[Au] Autor:Zamani S; Borhan Haghighi A; Haghpanah S; Karimi M; Bordbar MR
[Ad] Endereço:*Pediatric Department †Clinical Neurology Research Center ‡Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
[Ti] Título:Transcranial Doppler Screening in 50 Patients With Sickle Cell Hemoglobinopathies in Iran.
[So] Source:J Pediatr Hematol Oncol;39(7):506-512, 2017 Oct.
[Is] ISSN:1536-3678
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: As previous studies had discordant results with regard to the correlation of transcranial Doppler (TCD) screening and brain MRI, the aim of this study was to find the correlation between TCD values and silent ischemia in sickle cell disease (SCD) patients. METHOD AND MATERIALS: In this cross-sectional study, 50 patients with proven diagnosis of sickle cell hemoglobinopathies based on their hemoglobin electrophoresis were included. Demographic data, their physical exam, information with regard to crises history, and their laboratory data were recorded. Brain MRI and TCD were requested for all patients. RESULTS: The mean age of the patients was 10.2±5.8 years. Only 3 patients (6%) showed evidence of ischemia on brain MRI. Normal and ischemic patients were not significantly different with respect to TCD values, sex, splenomegaly, aplastic crisis, and laboratory test results (P-value >0.05). Only platelet count was significantly higher in the ischemic group compared with that in the normal group (P=0.002). The pain crisis was significantly associated with the mean velocity values of RMCA, LMCA, RV, and LV arteries (P-value <0.05). CONCLUSION: On the basis of our results, there was no significant difference in the mean velocity TCD values between patients with and without evidence of ischemic brain damage in brain MRI. The frequency of silent ischemia was much lower than expected. Further studies with larger sample sizes are needed to elucidate the positive predictive value of abnormal TCD in the prediction of silent ischemia in patients with sickle hemoglobinopathy in certain ethnic groups.
[Mh] Termos MeSH primário: Anemia Falciforme/complicações
Encéfalo/patologia
Ultrassonografia Doppler Transcraniana
[Mh] Termos MeSH secundário: Adolescente
Encéfalo/diagnóstico por imagem
Isquemia Encefálica/etiologia
Criança
Pré-Escolar
Estudos Transversais
Feminino
Hemoglobinopatias
Seres Humanos
Irã (Geográfico)
Imagem por Ressonância Magnética
Masculino
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171025
[Lr] Data última revisão:
171025
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170809
[St] Status:MEDLINE
[do] DOI:10.1097/MPH.0000000000000890


  7 / 3516 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28605432
[Au] Autor:Sabath DE
[Ad] Endereço:Department of Laboratory Medicine, University of Washington, Seattle.
[Ti] Título:Molecular Diagnosis of Thalassemias and Hemoglobinopathies: An ACLPS Critical Review.
[So] Source:Am J Clin Pathol;148(1):6-15, 2017 Jul 01.
[Is] ISSN:1943-7722
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Objectives: To describe the use of molecular diagnostic techniques for patients with hemoglobin disorders. Methods: A clinical scenario is presented in which molecular diagnosis is important for genetic counseling. Globin disorders, techniques for their diagnosis, and the role of molecular genetic testing in managing patients with these disorders are described in detail. Results: Hemoglobin disorders, including thalassemias and hemoglobinopathies, are among the commonest genetic diseases, and the clinical laboratory is essential for the diagnosis of patients with these abnormalities. Most disorders can be diagnosed with protein-based techniques such as electrophoresis and chromatography. Since severe syndromes can result due to inheritance of combinations of globin genetic disorders, genetic counseling is important to prevent adverse outcomes. Protein-based methods cannot always detect potentially serious thalassemia disorders; in particular, α-thalassemia may be masked in the presence of ß-thalassemia. Deletional forms of ß-thalassemia are also sometimes difficult to diagnose definitively with standard methods. Conclusions: Molecular genetic testing serves an important role in identifying individuals carrying thalassemia traits that can cause adverse outcomes in offspring. Furthermore, prenatal genetic testing can identify fetuses with severe globin phenotypes.
[Mh] Termos MeSH primário: Hemoglobinopatias/diagnóstico
Técnicas de Diagnóstico Molecular
Talassemia/diagnóstico
[Mh] Termos MeSH secundário: Feminino
Testes Genéticos
Hemoglobinopatias/genética
Seres Humanos
Masculino
Gravidez
Diagnóstico Pré-Natal
Talassemia/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171009
[Lr] Data última revisão:
171009
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170613
[St] Status:MEDLINE
[do] DOI:10.1093/ajcp/aqx047


  8 / 3516 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28593873
[Au] Autor:Danese E; Montagnana M; Salvagno GL; Lippi G
[Ad] Endereço:.
[Ti] Título:Can we still trust hemoglobin A1c in all situations?
[So] Source:Clin Chem Lab Med;55(11):e241-e242, 2017 10 26.
[Is] ISSN:1437-4331
[Cp] País de publicação:Germany
[La] Idioma:eng
[Mh] Termos MeSH primário: Diabetes Mellitus Tipo 1/diagnóstico
Diabetes Mellitus Tipo 2/diagnóstico
Hemoglobina A Glicada/análise
Hemoglobinopatias/diagnóstico
[Mh] Termos MeSH secundário: Biomarcadores/análise
Seres Humanos
[Pt] Tipo de publicação:LETTER
[Nm] Nome de substância:
0 (Biomarkers); 0 (Glycated Hemoglobin A); 0 (hemoglobin A1c protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170609
[St] Status:MEDLINE


  9 / 3516 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28475397
[Au] Autor:He S; Qin Q; Lin L; Chen Q; Yi S; Wei H; Du J; Zheng C; Qiu X; Chen B
[Ad] Endereço:a Prenatal Diagnostic Center , Guangxi Zhuang Autonomous Region Women and Children Care Hospital , Nanning , Guangxi , People's Republic of China.
[Ti] Título:Complex Interaction of Hb Q-Thailand with α - and ß -Thalassemia in a Chinese Family.
[So] Source:Hemoglobin;41(1):68-72, 2017 Jan.
[Is] ISSN:1532-432X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Hb Q-Thailand [α74(EF3)Asp→His (α1); HBA1: c.223 G>C] is an abnormal hemoglobin (Hb), variant found mainly in China and Southeast Asian countries. The association of the α -Thailand allele with other globin gene disorders has important implications in diagnosis. Here, we report a hitherto undescribed condition of patients with a double heterozygosity for Hb Q-Thailand with α -thalassemia (α -thal) and in combination with ß -thalassemia (ß -thal) in a Chinese family. Our study will provide some clinical manifestations, laboratory diagnosis and genetic counseling for complex hemoglobinopathies.
[Mh] Termos MeSH primário: Hemoglobinas Anormais/genética
Mutação
alfa-Globinas/genética
Talassemia alfa/diagnóstico
Talassemia alfa/genética
Talassemia beta/diagnóstico
Talassemia beta/genética
[Mh] Termos MeSH secundário: Adulto
Grupo com Ancestrais do Continente Asiático/genética
Criança
China
Análise Mutacional de DNA
Feminino
Estudos de Associação Genética
Hemoglobinopatias/diagnóstico
Hemoglobinopatias/genética
Heterozigoto
Seres Humanos
Masculino
Fenótipo
Talassemia alfa/sangue
Talassemia beta/sangue
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hemoglobins, Abnormal); 0 (alpha-Globins); 107527-63-9 (hemoglobin Q Thailand)
[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:170506
[St] Status:MEDLINE
[do] DOI:10.1080/03630269.2017.1295985


  10 / 3516 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28399358
[Au] Autor:Fábryová V; Bozek P; Drakulová M; Kollárová A; Striezencová ZL; Macichová M; Sakalová A
[Ad] Endereço:Department of Haematology, Hospital St. Michael, Bratislava, Slovakia.
[Ti] Título:Care for Haemoglobinopathy Patients in Slovakia.
[So] Source:Cent Eur J Public Health;25(1):67-71, 2017 Mar.
[Is] ISSN:1210-7778
[Cp] País de publicação:Czech Republic
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The paper presents the results od 22-year study of screening and follow-up of haemoglobinopathies in Slovakia, an overview of genetic mutations, the coincidence with hereditary haemochromatosis mutations, and the procedure in genetic councelling. METHODS: Between 1993-2015, in three centres in Bratislava and in one centre in Kosice, carriers of beta-thalassaemic genes or other haemoglobinopathies were searched for. Diagnosis was performed by haematologists, whereby the family history was evaluated, together with the overall clinical condition, blood count and blood smear, iron and haemolysis parameters, mutations of hereditary haemochromatosis, and haemoglobin electrophoresis testing. In the last years the haemoglobin division also examined by high performance liquid chromatography (HPLC). RESULTS: A clinical suspicion of the heterozygous form of beta-thalassaemia or other haemoglobinopathies was documented in 554 patients. Of them 32 (5.8%) were foreigners. 213 (38.45%) patients were genetically examined. In 190 (33.93%) of them heterozygote beta-thalassaemia was confirmed. The most frequent mutations were IVS 1.110 (33.15%), IVS 2.1 (33.15%), and IVS 1.6 (14.7%). Evidence of haemoglobin S (heterozygote sickle cell anaemia) was also notable in two non-relative children, whose fathers were of African origin, and one patient from Ghana. One female patient was followed up for haemoglobin Santa Ana (non-stabile haemoglobin previously diagnosed as mutation de novo). In our group, we took care of pregnant patients with haemoglobinopathies. CONCLUSIONS: The study showed that there is a higher number of heterozygotes for beta-thalassaemia and rarely haemoglobinopathies in Slovakia. Over the past years, we have recorded an increase number of foreigners coming to our country. It is necessary to continue in search of pathological gene carriers to avoid serious forms of haemoglobinopathies.
[Mh] Termos MeSH primário: Hemoglobinopatias/terapia
[Mh] Termos MeSH secundário: Adulto
Feminino
Aconselhamento Genético
Hemoglobinopatias/epidemiologia
Hemoglobinopatias/genética
Heterozigoto
Seres Humanos
Mutação
Gravidez
Eslováquia/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170619
[Lr] Data última revisão:
170619
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170412
[St] Status:MEDLINE
[do] DOI:10.21101/cejph.a4471



página 1 de 352 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