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The molecular basis of dominantly inherited beta-thalassemia.
Faustino, P; Centro de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo Jorge (INSA), Lisboa.; Barbot, J; Gonçalves, J; Peres, M J; Lavinha, JIn this study, we sought to clarity the molecular basis of a dominant inherited beta-thalassemia, found in heterozygosity in a northern Portuguese family with thalassemia intermedia. We characterized: i) the alpha-globin gene cluster structure; ii) the beta-globin gene cluster haplotype; and iii) the beta-thalassemia mutation. The alpha-globin gene cluster was structurally normal. The G-->T transversion at codo...
Neonatal screening of hemoglobinopathies in a population residing in Portugal.
Peres, M J; Departamento de Genética e Biologia Médica, Instituto Nacìonal de Saúde Dr Ricardo Jorge, Alfredo da Costa, Lisboa.; Carreiro, M HThe 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 neonat...
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