Hereditary anaemias in Portugal: epidemiology, public health significance, and control
Autor(a) principal: | |
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Data de Publicação: | 1993 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.18/735 |
Resumo: | A countrywide prospective study aimed at establishing the prevalence of the haemoglobinopathy genes in the Portuguese population was carried out by screening 15,208 randomly selected blood samples from young males. This male based survey provided the opportunity of assessing simultaneously the prevalence of the red cell enzyme glucose-6-phosphate dehydrogenase (G6PD) deficiency, thus giving a picture of these important hereditary anaemias in Portugal. The results showed a low average frequency of beta thalassaemia (0.45%) and haemoglobin S (0.32%) carriers as well as G6PD deficiency (0.51%). However, these disorders are unevenly distributed throughout the country with a higher prevalence in some areas, mainly in the south. The relationship of this pattern of haemoglobinopathies to the known haplotypes linked to beta thalassaemia and sickle cell disease, relevant historical events, and local selective pressure was investigated. Hb D and Hb J are the commonest other structural variants. The implemented programme for control of these hereditary anaemias is described. |
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Hereditary anaemias in Portugal: epidemiology, public health significance, and controlPatologias do Glóbulo VermelhoA countrywide prospective study aimed at establishing the prevalence of the haemoglobinopathy genes in the Portuguese population was carried out by screening 15,208 randomly selected blood samples from young males. This male based survey provided the opportunity of assessing simultaneously the prevalence of the red cell enzyme glucose-6-phosphate dehydrogenase (G6PD) deficiency, thus giving a picture of these important hereditary anaemias in Portugal. The results showed a low average frequency of beta thalassaemia (0.45%) and haemoglobin S (0.32%) carriers as well as G6PD deficiency (0.51%). However, these disorders are unevenly distributed throughout the country with a higher prevalence in some areas, mainly in the south. The relationship of this pattern of haemoglobinopathies to the known haplotypes linked to beta thalassaemia and sickle cell disease, relevant historical events, and local selective pressure was investigated. Hb D and Hb J are the commonest other structural variants. The implemented programme for control of these hereditary anaemias is described.BMJ Publishing GroupRepositório Científico do Instituto Nacional de SaúdeMartins, M.C.Olim, G.Melo, J.Magalhães, H.A.Rodrigues, M.O.2012-03-12T12:48:10Z1993-031993-03-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/735engJ Med Genet. 1993 Mar;30(3):235-90022-2593doi: 10.1136/jmg.30.3.235info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:38:24Zoai:repositorio.insa.pt:10400.18/735Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:36:01.874150Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Hereditary anaemias in Portugal: epidemiology, public health significance, and control |
title |
Hereditary anaemias in Portugal: epidemiology, public health significance, and control |
spellingShingle |
Hereditary anaemias in Portugal: epidemiology, public health significance, and control Martins, M.C. Patologias do Glóbulo Vermelho |
title_short |
Hereditary anaemias in Portugal: epidemiology, public health significance, and control |
title_full |
Hereditary anaemias in Portugal: epidemiology, public health significance, and control |
title_fullStr |
Hereditary anaemias in Portugal: epidemiology, public health significance, and control |
title_full_unstemmed |
Hereditary anaemias in Portugal: epidemiology, public health significance, and control |
title_sort |
Hereditary anaemias in Portugal: epidemiology, public health significance, and control |
author |
Martins, M.C. |
author_facet |
Martins, M.C. Olim, G. Melo, J. Magalhães, H.A. Rodrigues, M.O. |
author_role |
author |
author2 |
Olim, G. Melo, J. Magalhães, H.A. Rodrigues, M.O. |
author2_role |
author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Instituto Nacional de Saúde |
dc.contributor.author.fl_str_mv |
Martins, M.C. Olim, G. Melo, J. Magalhães, H.A. Rodrigues, M.O. |
dc.subject.por.fl_str_mv |
Patologias do Glóbulo Vermelho |
topic |
Patologias do Glóbulo Vermelho |
description |
A countrywide prospective study aimed at establishing the prevalence of the haemoglobinopathy genes in the Portuguese population was carried out by screening 15,208 randomly selected blood samples from young males. This male based survey provided the opportunity of assessing simultaneously the prevalence of the red cell enzyme glucose-6-phosphate dehydrogenase (G6PD) deficiency, thus giving a picture of these important hereditary anaemias in Portugal. The results showed a low average frequency of beta thalassaemia (0.45%) and haemoglobin S (0.32%) carriers as well as G6PD deficiency (0.51%). However, these disorders are unevenly distributed throughout the country with a higher prevalence in some areas, mainly in the south. The relationship of this pattern of haemoglobinopathies to the known haplotypes linked to beta thalassaemia and sickle cell disease, relevant historical events, and local selective pressure was investigated. Hb D and Hb J are the commonest other structural variants. The implemented programme for control of these hereditary anaemias is described. |
publishDate |
1993 |
dc.date.none.fl_str_mv |
1993-03 1993-03-01T00:00:00Z 2012-03-12T12:48:10Z |
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://hdl.handle.net/10400.18/735 |
url |
http://hdl.handle.net/10400.18/735 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
J Med Genet. 1993 Mar;30(3):235-9 0022-2593 doi: 10.1136/jmg.30.3.235 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
BMJ Publishing Group |
publisher.none.fl_str_mv |
BMJ Publishing Group |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799132088926994432 |