title: Screening for co-existence of α-thalassemia in β-thalassemia and in HbE heterozygotes via an enzyme-linked immunosorbent assay for Hb Bart's and embryonic ζ-globin chain.
abstract: We sought to demonstrate the ability of levels of Hb Bart's and ζ-globin chain quantified by enzyme-linked immunosorbent assay (ELISA) in detecting α-thalassemia in β-thalassemia and HbE heterozygotes. We developed an in-house sandwich ELISA method using monoclonal antibodies (mAbs) to Hb Bart's and ζ-globin chain, and quantified levels of Hb Bart's and ζ-globin chain in 172 and 223 anonymous blood samples of β-thalassemia and HbE heterozygotes, respectively. Genotypes of α-thalassemia 1, β-thalassemia were identified, and HbE allele was confirmed using a newly developed multiplex allele-specific PCR. The in-house sandwich ELISA method detected Hb Bart's in 6.4% of β-thalassemia heterozygotes, of which 5.2% showed detectable amounts of the ζ-globin chain. 15.2% of individuals heterozygous for HbE showed a detectable amount of Hb Bart's, and the ζ-globin chain was detected in 11.2% of this cohort. All samples having detectable amounts of Hb Bart's and the ζ-globin chain were verified to be SEA-type α-thalassemia 1. ELISA-quantified Hb Bart's and ζ-globin chain levels can be used to detect double heterozygosity of α- and β-thalassemia and of α-thalassemia and HbE. This strategy may be useful in screening for co-existence of α-thalassemia in β-thalassemia and in HbE heterozygotes, particularly in countries where α-, β-thalassemia and HbE are endemic.
authors.affiliation: Division of Clinical Microscopy, Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai 50200, Thailand. asittt@chiangmai.ac.th
authors.forename: Thanusak
authors.initials: T
authors.lastname: Tatu
authors.forename: Tiemjan
authors.initials: T
authors.lastname: Kiewkarnkha
authors.forename: Surakit
authors.initials: S
authors.lastname: Khuntarak
authors.forename: Sakdinan
authors.initials: S
authors.lastname: Khamrin
authors.forename: Surasit
authors.initials: S
authors.lastname: Suwannasin
authors.forename: Watchara
authors.initials: W
authors.lastname: Kasinrerk
mesh_terms: D004797:Enzyme-Linked Immunosorbent Assay; D006446:Hemoglobin E / Q000235:genetics; D006455:Hemoglobins, Abnormal; D006579:Heterozygote; D006801:Humans; D017085:alpha-Thalassemia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D017086:beta-Thalassemia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D055543:zeta-Globins
chemical_list: D006455:Hemoglobins, Abnormal; D055543:zeta-Globins; D006446:Hemoglobin E; C030448:hemoglobin Bart's