Hemoglobin Interlaken in Combination with Beta Thalassemia Trait

Mara J. Ojeda; Susana M. Perez; Karina L. Calvo; Arianna F. Pratti; María E. Voss; Angela C. Milani; Gustavo Chiappe; Beatriz Erramouspe; Irma M. Bragós

doi:10.4081/thal.2013.e3

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Case Report

16 January 2013

Hemoglobin Interlaken in Combination with Beta Thalassemia Trait

and

Cátedra Hematología, Facultad Ciencias Bioquímicas y Farmacéuticas, Universidad Nacional de Rosario, Rosario, Santa Fe, Argentina

Unidad Asistencial Dr. César Milstein, Ciudad Autónoma de Buenos Aires, Buenos Aires, Argentina

Author to whom correspondence should be addressed.

Thalass. Rep.2013, 3(1), e3;https://doi.org/10.4081/thal.2013.e3

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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.

Keywords:

thalassemia; hemoglobinopathies; microcytic hypocromic anemia; Hb interlaken

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