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. (December 2014)

• Record Type: Journal Article
• Authors: Prajantasen, Thanet; Teawtrakul, Nattiya; Fucharoen, Goonnapa; Fucharoen, Supan
• Is Part Of: Hemoglobin. Volume 38:Number 6(2014)
• Page Start: 451
• Page End: 453
• Publication Date: 2014-12
• Subjects: Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.3109/03630269.2014.974608
• Languages: English
• ISSNs: 0363-0269

Abstract

<abstract> <title>Abstract</title> <p>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 &gt; T) (<italic>HBB</italic>: c.-140C &gt; T) transition within the erythroid Krüppel-like factor (EKLF) binding site of the β-globin gene promoter with Hb E (<italic>HBB</italic>: c.79G &gt; 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.</p> </abstract>