title: A large cohort of β(+)-thalassemia in Thailand: molecular, hematological and diagnostic considerations.
abstract: We report the molecular and hematological characteristics associated with a large cohort of β(+)-thalassemia in Thailand. Study was done on 21,068 unrelated subjects referred to our center in northeast Thailand for hemoglobinopathies investigation. Among 21,068 subjects, 2637 (12.5%) were found to carry β-thalassemia. Of these 2637 cases, 705 (26.7%) carried β(+)-thalassemia with eight different mutations including 6 promoter mutations; NT-28 (A-G), NT-31 (A-G), NT-50 (G-A), NT-86 (C-G), NT-87 (C-A) and NT-90 (C-T) and two missense mutations; Hb Malay (codon 19; AAC-AGC) and Hb Dhonburi (codon 126; GTG-GGG). Hematological features of carriers with these β(+)-thalassemia (n=528) were compared with those with β(0)-thalassemia (n=309). Data for Hb E-β(+)-thalassemia (n=177) were also presented along with Hb E-β(0)-thalassemia in our series (n=94). All patients with Hb E-β(+)-thalassemia were associated with mild thalassemia intermedia phenotypes. Most of the β(+)-thalassemia carriers had elevated Hb A2 and mild hypochromic microcytosis, some demonstrated borderline MCV and MCH values which, could compromise carrier screening. Analysis of α/β-globin mRNA ratio in representative cases with normal, Hb E trait, β(+)-thalassemia trait, Hb Dhonburi trait and β(0)-thalassemia trait demonstrated the average values of 1.1, 1.7, 2.1, 1.7 and 3.1, respectively which is helpful in identification and differentiation of the cases.
authors.affiliation: Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences Khon Kaen University, Khon Kaen, Thailand.
authors.forename: Supawadee
authors.initials: S
authors.lastname: Yamsri
authors.affiliation: Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences Khon Kaen University, Khon Kaen, Thailand; Medical Science Program, Graduate School, Khon Kaen University, Thailand.
authors.forename: Kritsada
authors.initials: K
authors.lastname: Singha
authors.affiliation: Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences Khon Kaen University, Khon Kaen, Thailand; Medical Science Program, Graduate School, Khon Kaen University, Thailand.
authors.forename: Thanet
authors.initials: T
authors.lastname: Prajantasen
authors.affiliation: Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences Khon Kaen University, Khon Kaen, Thailand.
authors.forename: Wachiraporn
authors.initials: W
authors.lastname: Taweenan
authors.affiliation: Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences Khon Kaen University, Khon Kaen, Thailand.
authors.forename: Goonnapa
authors.initials: G
authors.lastname: Fucharoen
authors.affiliation: Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences Khon Kaen University, Khon Kaen, Thailand.
authors.forename: Kanokwan
authors.initials: K
authors.lastname: Sanchaisuriya
authors.affiliation: Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences Khon Kaen University, Khon Kaen, Thailand. Electronic address: supan@kku.ac.th.
authors.forename: Supan
authors.initials: S
authors.lastname: Fucharoen
mesh_terms: D003062:Codon; D015331:Cohort Studies; D005260:Female; D018740:Genetic Heterogeneity; D005820:Genetic Testing; D005838:Genotype; D006443:Hemoglobin A2 / Q000235:genetics; D006446:Hemoglobin E / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D011401:Promoter Regions, Genetic; D013785:Thailand; D055542:alpha-Globins / Q000235:genetics; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics* / Q000473:pathology
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; D055544:beta-Globins; C063216:hemoglobin Malay; C065670:hemoglobin Dhonburi; D006443:Hemoglobin A2; D006446:Hemoglobin E
keywords: Hb Dhonburi; Hb Malay; Thalassemia screening; mRNA analysis; β(+)-Thalassemia