Hemoglobin Interlaken in combination with beta thalassemia trait

We report a rare a1 globin gene variant (Hb Interlaken) found in a 63-year-old woman of Italian ancestry living in Buenos Aires Province, Argentina. The variant, a missense mutation at cd15 (GGT → GAT) causing a Gly →Asp amino acid substitution and also known as Hb J Oxford, was found in combination...

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Detalles Bibliográficos
Autores: Ojeda, Mara Jorgelina, Perez, Susana M., Calvo, Karina Lucrecia, Pratti, Arianna F., Voss, María E., Milani, Angela Cristina, Chiappe, Gustavo, Erramouspe, Beatriz, Bragós, Irma M.
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2013
País:Argentina
Institución:Consejo Nacional de Investigaciones Científicas y Técnicas
Repositorio:CONICET Digital (CONICET)
Idioma:inglés
OAI Identifier:oai:ri.conicet.gov.ar:11336/6123
Acceso en línea:http://hdl.handle.net/11336/6123
Access Level:acceso abierto
Palabra clave:THALASSEMIA
HEMOGLOBINOPATHIES
MICROCYTIC HYPOCROMIC ANEMIA
HB INTERLAKEN
https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
Descripción
Sumario:We report a rare a1 globin gene variant (Hb Interlaken) found in a 63-year-old woman of Italian ancestry living in Buenos Aires Province, Argentina. The variant, a missense mutation at cd15 (GGT → GAT) causing a Gly →Asp amino acid substitution and also known as Hb J Oxford, was found in combination with the common thalassemia trait cd 39 (C→T). The clinical picture of the patient was that of a b-thalassemia trait.

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