Artículos de revistas
Hemoglobin Interlaken in combination with beta thalassemia trait
Fecha
2013-01Registro en:
Ojeda, Mara Jorgelina; Perez, Susana M.; Calvo, Karina Lucrecia; Pratti, Arianna F.; Voss, María E.; et al.; Hemoglobin Interlaken in combination with beta thalassemia trait; PAGEPress®; Thalassemia Reports; 3; 1; 1-2013; 11-12
2039-4365
Autor
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.
Resumen
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.