Diagnóstico laboratorial de hemoglobinopatias em populações diferenciadas
Autor(a) principal: | |
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Data de Publicação: | 2000 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.1590/S1516-84842000000200007 http://hdl.handle.net/11449/66359 |
Resumo: | The inherited haemoglobinopathies are a heterogeneous group of recessive disorders that include the thalassaemias and sickle cell disease. Nearly a thousand mutant alleles have now been characterized. The mutations are regionally specific and in most cases the geographical and ethnic distribution shave been determined providing the foundation for a program of control through screening, genetic counseling and prenatal diagnosis. The diagnosis of hemoglobinopathies requires care for the methodologies applied and the population group which will be evaluated. The information about the abnormal hemoglobin, the medical and psychological aspects and genetic counseling of the carriers and their families are goals of great importance for the success of preventive programs in this area. Aiming to evaluate the laboratory methods for hemoglobinopathy screening and their use in clinical laboratories, we have compared abnormal hemoglobins incidence in the different population groups: blood donors, anemia carriers, newborn and students. The laboratory methods applied involved eletrophoretic proceedings, cytological and biochemical analysis. Within the period from September 1999 through January 2000, we analyzed 524 individuals with varied types of abnormal hemoglobins. Among blood donors, we diagnosed two sickle cell carriers, which suggest the necessity for better care in the process of selection of blood donor candidates. The current interest in the medical and social aspects of sickle cell anemia has resulted in a great increase in methodology research leading to the development of sickle cell screening techniques. |
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Diagnóstico laboratorial de hemoglobinopatias em populações diferenciadasLaboratory diagnosis of Hemoglobinopathies in different population groupsAbnormal hemoglobinHemoglobinopathies preventionLaboratory diagnosisThalassemiasThe inherited haemoglobinopathies are a heterogeneous group of recessive disorders that include the thalassaemias and sickle cell disease. Nearly a thousand mutant alleles have now been characterized. The mutations are regionally specific and in most cases the geographical and ethnic distribution shave been determined providing the foundation for a program of control through screening, genetic counseling and prenatal diagnosis. The diagnosis of hemoglobinopathies requires care for the methodologies applied and the population group which will be evaluated. The information about the abnormal hemoglobin, the medical and psychological aspects and genetic counseling of the carriers and their families are goals of great importance for the success of preventive programs in this area. Aiming to evaluate the laboratory methods for hemoglobinopathy screening and their use in clinical laboratories, we have compared abnormal hemoglobins incidence in the different population groups: blood donors, anemia carriers, newborn and students. The laboratory methods applied involved eletrophoretic proceedings, cytological and biochemical analysis. Within the period from September 1999 through January 2000, we analyzed 524 individuals with varied types of abnormal hemoglobins. Among blood donors, we diagnosed two sickle cell carriers, which suggest the necessity for better care in the process of selection of blood donor candidates. The current interest in the medical and social aspects of sickle cell anemia has resulted in a great increase in methodology research leading to the development of sickle cell screening techniques.Instituto de Biociências UNESP, Botucatu, SPInstituto de Biociências, Letras e Ciências Exatas UNESP, São José do Rio Preto, SPLaboratório de Hemoglobinas UNESP, Rua Cristóvão Colombo, 2265, CEP: 15054-000. São José do Ro Preto. SPInstituto de Biociências UNESP, Botucatu, SPInstituto de Biociências, Letras e Ciências Exatas UNESP, São José do Rio Preto, SPLaboratório de Hemoglobinas UNESP, Rua Cristóvão Colombo, 2265, CEP: 15054-000. São José do Ro Preto. SPUniversidade Estadual Paulista (Unesp)Orlando, Giselda M. [UNESP]Naoum, Paulo C. [UNESP]Siqueira, Fatima A. M. [UNESP]Bonini-Domingos, Cláudia Regina [UNESP]2014-05-27T11:19:59Z2014-05-27T11:19:59Z2000-12-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article111-121application/pdfhttp://dx.doi.org/10.1590/S1516-84842000000200007Revista Brasileira de Hematologia e Hemoterapia, v. 22, n. 2, p. 111-121, 2000.1516-8484http://hdl.handle.net/11449/6635910.1590/S1516-84842000000200007S1516-848420000002000072-s2.0-337473605922-s2.0-33747360592.pdf32794280661767190000-0002-4603-9467Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPporRevista Brasileira de Hematologia e Hemoterapia0,335info:eu-repo/semantics/openAccess2023-12-26T06:22:43Zoai:repositorio.unesp.br:11449/66359Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-05T21:23:27.653349Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Diagnóstico laboratorial de hemoglobinopatias em populações diferenciadas Laboratory diagnosis of Hemoglobinopathies in different population groups |
title |
Diagnóstico laboratorial de hemoglobinopatias em populações diferenciadas |
spellingShingle |
Diagnóstico laboratorial de hemoglobinopatias em populações diferenciadas Orlando, Giselda M. [UNESP] Abnormal hemoglobin Hemoglobinopathies prevention Laboratory diagnosis Thalassemias |
title_short |
Diagnóstico laboratorial de hemoglobinopatias em populações diferenciadas |
title_full |
Diagnóstico laboratorial de hemoglobinopatias em populações diferenciadas |
title_fullStr |
Diagnóstico laboratorial de hemoglobinopatias em populações diferenciadas |
title_full_unstemmed |
Diagnóstico laboratorial de hemoglobinopatias em populações diferenciadas |
title_sort |
Diagnóstico laboratorial de hemoglobinopatias em populações diferenciadas |
author |
Orlando, Giselda M. [UNESP] |
author_facet |
Orlando, Giselda M. [UNESP] Naoum, Paulo C. [UNESP] Siqueira, Fatima A. M. [UNESP] Bonini-Domingos, Cláudia Regina [UNESP] |
author_role |
author |
author2 |
Naoum, Paulo C. [UNESP] Siqueira, Fatima A. M. [UNESP] Bonini-Domingos, Cláudia Regina [UNESP] |
author2_role |
author author author |
dc.contributor.none.fl_str_mv |
Universidade Estadual Paulista (Unesp) |
dc.contributor.author.fl_str_mv |
Orlando, Giselda M. [UNESP] Naoum, Paulo C. [UNESP] Siqueira, Fatima A. M. [UNESP] Bonini-Domingos, Cláudia Regina [UNESP] |
dc.subject.por.fl_str_mv |
Abnormal hemoglobin Hemoglobinopathies prevention Laboratory diagnosis Thalassemias |
topic |
Abnormal hemoglobin Hemoglobinopathies prevention Laboratory diagnosis Thalassemias |
description |
The inherited haemoglobinopathies are a heterogeneous group of recessive disorders that include the thalassaemias and sickle cell disease. Nearly a thousand mutant alleles have now been characterized. The mutations are regionally specific and in most cases the geographical and ethnic distribution shave been determined providing the foundation for a program of control through screening, genetic counseling and prenatal diagnosis. The diagnosis of hemoglobinopathies requires care for the methodologies applied and the population group which will be evaluated. The information about the abnormal hemoglobin, the medical and psychological aspects and genetic counseling of the carriers and their families are goals of great importance for the success of preventive programs in this area. Aiming to evaluate the laboratory methods for hemoglobinopathy screening and their use in clinical laboratories, we have compared abnormal hemoglobins incidence in the different population groups: blood donors, anemia carriers, newborn and students. The laboratory methods applied involved eletrophoretic proceedings, cytological and biochemical analysis. Within the period from September 1999 through January 2000, we analyzed 524 individuals with varied types of abnormal hemoglobins. Among blood donors, we diagnosed two sickle cell carriers, which suggest the necessity for better care in the process of selection of blood donor candidates. The current interest in the medical and social aspects of sickle cell anemia has resulted in a great increase in methodology research leading to the development of sickle cell screening techniques. |
publishDate |
2000 |
dc.date.none.fl_str_mv |
2000-12-01 2014-05-27T11:19:59Z 2014-05-27T11:19:59Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.1590/S1516-84842000000200007 Revista Brasileira de Hematologia e Hemoterapia, v. 22, n. 2, p. 111-121, 2000. 1516-8484 http://hdl.handle.net/11449/66359 10.1590/S1516-84842000000200007 S1516-84842000000200007 2-s2.0-33747360592 2-s2.0-33747360592.pdf 3279428066176719 0000-0002-4603-9467 |
url |
http://dx.doi.org/10.1590/S1516-84842000000200007 http://hdl.handle.net/11449/66359 |
identifier_str_mv |
Revista Brasileira de Hematologia e Hemoterapia, v. 22, n. 2, p. 111-121, 2000. 1516-8484 10.1590/S1516-84842000000200007 S1516-84842000000200007 2-s2.0-33747360592 2-s2.0-33747360592.pdf 3279428066176719 0000-0002-4603-9467 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
Revista Brasileira de Hematologia e Hemoterapia 0,335 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
111-121 application/pdf |
dc.source.none.fl_str_mv |
Scopus reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
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1808129315858022400 |