EF Bart's Disease with Coinheritance of G γ-XmnI and A γ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia

Kane M Laks; Cara Hirner; Barbara Gruner; Jared Coberly; Katsiaryna Laziuk; Bindu Kanathezhath Sathi

doi:10.1155/2020/8869335

EF Bart's Disease with Coinheritance of G γ-XmnI and A γ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia

Case Rep Hematol. 2020 Oct 30:2020:8869335. doi: 10.1155/2020/8869335. eCollection 2020.

Authors

Kane M Laks¹, Cara Hirner¹, Barbara Gruner¹, Jared Coberly², Katsiaryna Laziuk², Bindu Kanathezhath Sathi^{1

3}

Affiliations

¹ Department of Pediatrics, University of Missouri School of Medicine, Columbia, MO, USA.
² Department of Pathological Sciences, University of Missouri School of Medicine, Columbia, MO, USA.
³ Pediatric Hematology Oncology, Valley Children's Hospital, Madera, CA, USA.

Abstract

EF Bart's disease is a rare form of nontransfusion-dependant thalassemia (NTDT) due to the coinheritance of homozygous hemoglobin E (β ^E/β ^E) 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.

Publication types

Case Reports