Diagnóstico laboratorial de hemoglobinopatias em populações diferenciadas

Detalhes bibliográficos
Autor(a) principal: Orlando, Giselda M. [UNESP]
Data de Publicação: 2000
Outros Autores: Naoum, Paulo C. [UNESP], Siqueira, Fatima A. M. [UNESP], Bonini-Domingos, Cláudia Regina [UNESP]
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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spelling 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)
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