Molecular Characterization of a β-Thalassemia Intermedia Patient Presenting Inferior Vena Cava Thrombosis: Interaction of the β-Globin Erythroid Krüppel-Like Factor Binding Site Mutation with Hb E and α+-Thalassemia
| Autor: | Nattiya Teawtrakul, Goonnapa Fucharoen, Supan Fucharoen, Thanet Prajantasen |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
Male Thalassemia Clinical Biochemistry Kruppel-Like Transcription Factors Vena Cava Inferior beta-Globins Budd-Chiari Syndrome Biology medicine.disease_cause Inferior vena cava alpha-Thalassemia hemic and lymphatic diseases medicine Humans Globin Binding site Gene Genetics (clinical) Genetics Mutation Hemoglobin E beta-Thalassemia Biochemistry (medical) Haplotype Promoter Hematology medicine.disease Molecular biology medicine.vein |
| Zdroj: | Hemoglobin. 38:451-453 |
| ISSN: | 1532-432X 0363-0269 |
| DOI: | 10.3109/03630269.2014.974608 |
| Popis: | The molecular basis and hematological phenotype of adult Thai β-thalassemia intermedia (β-TI) patients encountered with inferior vena cava (IVC) thrombosis were investigated. Hematological and molecular analysis revealed a trait previously not described. The disease was caused by interaction of the β+-thalassemia (β+-thal) gene with the −90 (C > T) (HBB: c.-140C > T) transition within the erythroid Kruppel-like factor (EKLF) binding site of the β-globin gene promoter with Hb E (HBB: c.79G > A) and α+-thalassemia (α+-thal). Hematological data of the patient were compared with those of heterozygous forms of these defects found in his family members and different genotype-phenotype interactions are illustrated. Globin gene haplotype analysis indicates an independent origin of this Thai β+-thal gene. Accurate diagnoses as well as knowledge of genotype-phenotype relationships were required for providing appropriate management of such cases. |
| Databáze: | OpenAIRE |
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