EF Bart’s Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia
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 h...
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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2020/8869335 |
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| author | Kane M. Laks Cara Hirner Barbara Gruner Jared Coberly Katsiaryna Laziuk Bindu Kanathezhath Sathi |
| author_facet | Kane M. Laks Cara Hirner Barbara Gruner Jared Coberly Katsiaryna Laziuk Bindu Kanathezhath Sathi |
| author_sort | Kane M. Laks |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-ddd2193f791e4190b19acf05361c44e0 |
| institution | Kabale University |
| issn | 2090-6560 2090-6579 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Hematology |
| spelling | doaj-art-ddd2193f791e4190b19acf05361c44e02025-02-03T01:00:11ZengWileyCase Reports in Hematology2090-65602090-65792020-01-01202010.1155/2020/88693358869335EF Bart’s Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant ThalassemiaKane M. Laks0Cara Hirner1Barbara Gruner2Jared Coberly3Katsiaryna Laziuk4Bindu Kanathezhath Sathi5Department of Pediatrics, University of Missouri School of Medicine, Columbia, MO, USADepartment of Pediatrics, University of Missouri School of Medicine, Columbia, MO, USADepartment of Pediatrics, University of Missouri School of Medicine, Columbia, MO, USADepartment of Pathological Sciences, University of Missouri School of Medicine, Columbia, MO, USADepartment of Pathological Sciences, University of Missouri School of Medicine, Columbia, MO, USADepartment of Pediatrics, University of Missouri School of Medicine, Columbia, MO, USAEF 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.http://dx.doi.org/10.1155/2020/8869335 |
| spellingShingle | Kane M. Laks Cara Hirner Barbara Gruner Jared Coberly Katsiaryna Laziuk Bindu Kanathezhath Sathi EF Bart’s Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia Case Reports in Hematology |
| title | EF Bart’s Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia |
| title_full | EF Bart’s Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia |
| title_fullStr | EF Bart’s Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia |
| title_full_unstemmed | EF Bart’s Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia |
| title_short | EF Bart’s Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia |
| title_sort | ef bart s disease with coinheritance of gγ xmni and aγ globin polymorphisms a case of nontransfusion dependant thalassemia |
| url | http://dx.doi.org/10.1155/2020/8869335 |
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