Case Reports in Hematology (Jan 2020)

EF Bart’s Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia

  • Kane M. Laks,
  • Cara Hirner,
  • Barbara Gruner,
  • Jared Coberly,
  • Katsiaryna Laziuk,
  • Bindu Kanathezhath Sathi

DOI
https://doi.org/10.1155/2020/8869335
Journal volume & issue
Vol. 2020

Abstract

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EF Bart’s disease is a rare form of nontransfusion-dependant thalassemia (NTDT) due to the coinheritance of homozygous hemoglobin E (βE/βE) genotype with hemoglobin H disease. These individuals are routinely found to have thalassemia intermedia with moderate anemia, increased hemoglobin Bart’s and hemoglobin F on electrophoresis. The contribution of hemoglobin F-inducing polymorphisms in this disease has not been described previously. Here, we describe the hematological profile in a young child with coinheritance of Gγ-XmnI and Aγ-globin gene polymorphisms in EF Bart’s disease. Interestingly, in this rare form of NTDT, normal HbF and elevated HbA2 were noted.