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: Thanet Prajantasen, Nattiya Teawtrakul, Goonnapa Fucharoen, Supan Fucharoen
• Journal: Hemoglobin (Hemoglobin) Vol. 38 Issue 6 Pg. 451-3 ( 2014) ISSN: 1532-432X [Electronic] England
• PMID: 25370867 (Publication Type: Case Reports, Clinical Trial, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Kruppel-Like Transcription Factors
• beta-Globins
• erythroid Kruppel-like factor
• Hemoglobin E

Topics

• Adult
• Budd-Chiari Syndrome (genetics, pathology)
• Hemoglobin E (genetics)
• Humans
• Kruppel-Like Transcription Factors
• Male
• Mutation
• Vena Cava, Inferior
• alpha-Thalassemia (genetics, pathology)
• beta-Globins (genetics)
• beta-Thalassemia (genetics, pathology)