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Ggamma -37 (A-->T): a new nondeletional hereditary persistence of fetal hemoglobin determinant associated with the rare codon 91 (+T) delta0-thalassemia.
Bouva, Marelle J; Harteveld, Cornelis L; Bakker-Verweij, Greet; van Delft, Peter; Giordano, Piero C.
Afiliação
  • Bouva MJ; Department of Human and Clinical Genetics, Leiden University Medical Centre (LUMC), Leiden, The Netherlands.
Hemoglobin ; 30(3): 371-7, 2006.
Article em En | MEDLINE | ID: mdl-16840228
ABSTRACT
We recently described a rare frameshift mutation in the delta-globin gene in a Dutch patient, in association with a new mutation of the Ggamma-globin gene promoter [Ggamma -37 (A-->T)] with a moderately elevated Hb F level of 2.3%. The delta mutation at codon 91 (+T) has been described once before in our laboratory in 1989, in a complex Belgian family with Ggamma (Agammadeltabeta)0-thalassemia (thal) and moderately elevated Hb F levels, without the Ggamma (Agammadeltabeta)0-thal deletion in some individuals. Analysis of the patients from 1989 revealed the presence of the same Ggamma-globin gene mutation and moderately elevated Hb F in all patients, who were also carriers of the delta-globin gene frameshift. Further analysis demonstrated that the two mutations were in linkage with the same haplotype in both the Belgian family and the recently found patient, confirming the association of the elevated Hb F expression with the new Ggamma-globin gene mutation.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Talassemia / Códon / Hemoglobina Fetal / Globinas / Mutação da Fase de Leitura Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Adult / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Hemoglobin Ano de publicação: 2006 Tipo de documento: Article
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Talassemia / Códon / Hemoglobina Fetal / Globinas / Mutação da Fase de Leitura Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Adult / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Hemoglobin Ano de publicação: 2006 Tipo de documento: Article