Hemoglobin Interlaken in combination with beta thalassemia trait

被引：0

作者：

Ojeda, Mara J. ^{[1
]}

Perez, Susana M. ^{[1
]}

Calvo, Karina L. ^{[1
]}

Pratti, Arianna F. ^{[1
]}

Voss, Maria E. ^{[1
]}

Milani, Angela C. ^{[1
]}

Chiappe, Gustavo ^{[2
]}

Erramouspe, Beatriz ^{[2
]}

Bragos, Irma M. ^{[1
]}

机构：

[1] Univ Nacl Rosario, Catedra Hematol, Fac Ciencias Bioquim & Farmaceut, Rosario, Santa Fe, Argentina

[2] Unidad Asistencial Dr Cesar Milstein, Buenos Aires, DF, Argentina

来源：

THALASSEMIA REPORTS | 2013年 / 3卷 / 01期

关键词：

D O I：

10.4081/thal.2013.e3

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We report a rare alpha 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 beta-thalassemia trait.

引用

页码：10 / 11

页数：2

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