title: Characterization of a hemoglobin variant: HbQ-India / IVS 1-1 [G>T]-β-thalassemia.
abstract: Hemoglobin Q- India (alpha) 64 Asp → His is an alpha chain variant which is generally found in heterozygous state and presents normal hematological blood picture. Here we report a rare case of HbQ-India with a thalassemic phenotype that has been analyzed using a combination of mass spectrometry, gene sequencing and PCR analysis. This combined analyses revealed the HbQ variant to be associated with a beta chain mutation, IVS 1-1 [G>T]. Though HbQ has earlier been reported with thalassemic trait using different techniques, this is the first report of a compound α and β chain Hb heterozygous mutant involving HbQ and IVS1-1 being validated using Mass Spectrometry and Reverse dot blot hybridization.
authors.affiliation: Department of Biochemistry, Manipal Hospital Diagnostic Services, Manipal Hospital, Old Airport road, Bangalore, 560017 India  ; Manipal Hospital, Old Airport road, Bangalore, 560017 India.
authors.forename: Vijay S
authors.initials: VS
authors.lastname: Bhat
authors.forename: K K
authors.initials: KK
authors.lastname: Dewan
authors.forename: P R
authors.initials: PR
authors.lastname: Krishnaswamy
authors.forename: A K
authors.initials: AK
authors.lastname: Mandal
authors.forename: P
authors.initials: P
authors.lastname: Balaram
keywords: Amplification Refractory Mutation System; Hemoglobin Q; Intervening sequence; Mass Spectrometry; Reverse dot blot hybridization