IFISE 05411
INSTITUTO DE FISIOLOGIA EXPERIMENTAL
Unidad Ejecutora - UE
artículos
Título:
HEMOGLOBIN INTERLAKEN IN COMBINATION WITH BETA THALASSEMIA TRAIT
Autor/es:
OJEDA M; PEREZ S; CALVO K; PRATTI A; VOSS M; MILANI A; CHIAPPE G; ERRAMOUSPE B; BRAGÓS I.
Revista:
Thalassemia Reports
Editorial:
PAGEPress®
Referencias:
Año: 2013 vol. 3 p. 11 - 12
ISSN:
2039-4365
Resumen:
We report a rare 1 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 -thalassemia trait.
