Author:
Ojeda Mara J.,Perez Susana M.,Calvo Karina L.,Pratti Arianna F.,Voss María E.,Milani Angela C.,Chiappe Gustavo,Erramouspe Beatriz,Bragós Irma M.
Abstract
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.
Cited by
1 articles.
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