Thalassemia Reports (Jan 2013)

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
https://doi.org/10.4081/thal.2013.e3
Journal volume & issue
Vol. 3, no. 1
pp. e3 – e3

Abstract

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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. 我们曾报道在阿根廷布宜诺斯艾利斯一名63岁意大利血统的妇女体内发现罕有的1珠蛋白基因（因特拉肯血红蛋白）变体。研究发现该变体是导致Gly → Asp氨基酸置的错义突变，也称为Hb J Oxford，与常见的地中海贫血性症cd 39 （C → T）有关。该患者临床症状与乙型地中海贫血特征相同。

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