Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.17/633
Título: Rastreio Neonatal de Hemoglobinopatias numa População Residente em Portugal
Outros títulos: Neonatal Screening of Hemoglobinopathies in a Population Residing in Portugal
Autor: Peres, MJ
Carreiro, MH
Machado, MC
Seixas, T
Picanço, I
Batalha, L
Lavinha, J
Martins, MC
Palavras-chave: Hemoglobinopatia
Rastreio Neonatal
Portugal
Traço Falciforme
MAC PED
Data: 1996
Editora: Centro Editor e Livreiro da Ordem dos Médicos
Citação: Acta Med Port. 1996 Apr-Jun; 9 (4-6): 135-9
Resumo: The primary objective of newborn screening of hemoglobinopathies is the early identification of infants with sickle cell disease, as they are at increased clinical risk. Other goals include the identification of other types of clinically significant hemoglobinopathies and the detection of heterozygous carriers followed by the screening and counselling of family members. We performed a pilot study for the neonatal screening of hemoglobinopathies in 400 samples of cord blood taken from a maternity in Lisbon. We did not find any newborn with sickle cell disease. Six samples were from sickle cell heterozygotes, the respective families were studied and informed. We looked for the presence of alpha-thalassemia at birth in 100 consecutive samples of cord blood, by the presence of Hb Bart's, abnormal red blood cell indices and alpha-globin genotype. The results show an incidence of 10% of alpha-thalassemia (-alpha) carriers and 4% of triple alpha-globin gene carriers. The authors discuss the feasibility of neonatal screening of hemoglobinopathies in a Portuguese-speaking population consisting of a low prevalence of Hb S trait autoclonous group and a high prevalence immigrant minority
Peer review: yes
URI: http://hdl.handle.net/10400.17/633
Aparece nas colecções:PED - Artigos

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