EF Bart’s Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia
Joint Authors
Laks, Kane M.
Hirner, Cara
Gruner, Barbara
Coberly, Jared
Laziuk, Katsiaryna
Sathi, Bindu Kanathezhath
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-10-30
Country of Publication
Egypt
No. of Pages
5
Main Subjects
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.
American Psychological Association (APA)
Laks, Kane M.& Hirner, Cara& Gruner, Barbara& Coberly, Jared& Laziuk, Katsiaryna& Sathi, Bindu Kanathezhath. 2020. EF Bart’s Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia. Case Reports in Hematology،Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1147859
Modern Language Association (MLA)
Laks, Kane M.…[et al.]. EF Bart’s Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia. Case Reports in Hematology No. 2020 (2020), pp.1-5.
https://search.emarefa.net/detail/BIM-1147859
American Medical Association (AMA)
Laks, Kane M.& Hirner, Cara& Gruner, Barbara& Coberly, Jared& Laziuk, Katsiaryna& Sathi, Bindu Kanathezhath. EF Bart’s Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia. Case Reports in Hematology. 2020. Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1147859
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1147859