title: 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.
abstract: 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 Krüppel-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.
authors.affiliation: Biomedical Science Program, Graduate School, Khon Kaen University , Khon Kaen , Thailand .
authors.forename: Thanet
authors.initials: T
authors.lastname: Prajantasen
authors.forename: Nattiya
authors.initials: N
authors.lastname: Teawtrakul
authors.forename: Goonnapa
authors.initials: G
authors.lastname: Fucharoen
authors.forename: Supan
authors.initials: S
authors.lastname: Fucharoen
mesh_terms: D000328:Adult; D006502:Budd-Chiari Syndrome / Q000235:genetics* / Q000473:pathology; D006446:Hemoglobin E / Q000235:genetics*; D006801:Humans; D051741:Kruppel-Like Transcription Factors; D008297:Male; D009154:Mutation; D014682:Vena Cava, Inferior; D017085:alpha-Thalassemia / Q000235:genetics* / Q000473:pathology; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics* / Q000473:pathology
chemical_list: D051741:Kruppel-Like Transcription Factors; D055544:beta-Globins; C080774:erythroid Kruppel-like factor; D006446:Hemoglobin E
keywords: Hb E-β-thalassemia (Hb E-β-thal); erythroid Krüppel-like factor (EKLF) binding site mutation; α+-Thalassemia (α+-thal)