title: Implication of globin gene expression, hemoglobin F and hemoglobin E levels on β-thalassemia/Hb E disease severity.
abstract: One of the factors affecting the degree of severity in β-thalassemia disease is the presence of unmatched α-hemoglobin chains. Thus, the expression levels of globin genes in reticulocytes of β-thalassemia subjects were measured using quantitative RT-PCR, demonstrating that α/β globin mRNA ratio, as well as levels of γ-globin mRNA and Hb F, increased with progressing degree of β globin synthesis defect. The levels of γ-globin mRNA and Hb F could not be directly correlated with severity of β-thalassemia/Hb E disease due to a low statistical power of this analysis. Higher levels of Hb E were present, however, in clinically mild patients, as compared to moderately severe β-thalassemia/Hb E subjects. This suggests that in β-thalassemia/Hb E disease, elevation of Hb E level through enhancing correctly spliced β(E)-globin mRNA offers another approach in ameliorating disease severity. In addition, co-inheritance of α-thalassemia 2 trait in β-thalassemia/Hb E subjects was associated with milder outcome compared with those with the same β-thalassemia genotypes, confirming the notion of the beneficial effect of a more balanced α:β-globin chain ratio.
authors.affiliation: Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Suwimol
authors.initials: S
authors.lastname: Siriworadechkul
authors.affiliation: Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand sumalee.jin@mahidol.ac.th.
authors.forename: Sumalee
authors.initials: S
authors.lastname: Jindadamrongwech
authors.affiliation: Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Suporn
authors.initials: S
authors.lastname: Chuncharunee
authors.affiliation: Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Saranya
authors.initials: S
authors.lastname: Aupparakkitanon
mesh_terms: D005260:Female; D005319:Fetal Hemoglobin / Q000378:metabolism*; D005838:Genotype; D005914:Globins / Q000235:genetics* / Q000378:metabolism; D006446:Hemoglobin E / Q000378:metabolism*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D012333:RNA, Messenger / Q000378:metabolism; D012720:Severity of Illness Index; D018709:Statistics, Nonparametric; D017086:beta-Thalassemia / Q000097:blood* / Q000235:genetics
chemical_list: D012333:RNA, Messenger; D005914:Globins; D006446:Hemoglobin E; D005319:Fetal Hemoglobin
keywords: Globin gene expression; Hemoglobin E; Hemoglobin F; modifying factor; β-thalassemia