Hemoglobin Interlaken in Combination with Beta Thalassemia Trait

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.