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Hb Barika [alpha42(C7)Tyr-->His (alpha2)] leads to an alpha+ -Thalassemia-like syndrome.
Préhu, Claude; Riou, Jean; Wajcman, Henri.
Afiliação
  • Préhu C; INSERM U654 and Service de Biochimie, Hôpital Henri Mondor AP-HP, Créteil, France.
Hemoglobin ; 31(1): 17-22, 2007.
Article em En | MEDLINE | ID: mdl-17365001
In human deoxyhemoglobin (deoxyHb), the hydrogen bond between Aspbeta99(G1) and Tyralpha42(C7), located in the alpha1beta2 interface, is crucial for the stability of the T structure. All the variants that could arise from a single point mutation affecting codon beta99 have already been observed, leading always to erythrocytosis. Conversely, up to now, Hb Barika is the only example found in a patient in whom the alpha42 is mutated. From a biochemical point of view, for theoretical reasons, this substitution has already been extensively studied on recombinant hemoglobin (rHb). In the patient, Hb Barika is expressed at a level lower than expected for an alpha2 gene variant and leads to an alpha+-thalassemic-like syndrome.
Assuntos
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Base de dados: MEDLINE Assunto principal: Hemoglobinas Anormais / Talassemia alfa / Anemia Hipocrômica Tipo de estudo: Diagnostic_studies Limite: Child, preschool / Humans Idioma: En Ano de publicação: 2007 Tipo de documento: Article
Buscar no Google
Base de dados: MEDLINE Assunto principal: Hemoglobinas Anormais / Talassemia alfa / Anemia Hipocrômica Tipo de estudo: Diagnostic_studies Limite: Child, preschool / Humans Idioma: En Ano de publicação: 2007 Tipo de documento: Article