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

Abstract EN

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.