title: Co-inheritance of HbD (Iran)/Beta Thalassemia IVS1-5 (G > C) Trait in a Punjabi Lady with Diabetes.
abstract: The present report describes the molecular study of HbD (Iran) (beta) 22 Glu → Gln associated with β-Thalassemia IVS1-5 (G > C) found in India, and the first case in which mutation has been identified using mass spectrometry. Given the apparent ethnic origin and the mobility of the variant hemoglobin at alkaline pH, hemoglobin D-Punjab would be suspected, but HPLC excluded this possibility. Further characterization of hemoglobinopathy was made by using nondenaturing gel electrophoresis and matrix assisted laser desorption ionization mass spectrometry and IVS1-5 being validated by reverse dot blot hybridization followed by sequencing of the β-globin gene.
authors.affiliation: Department of Biochemistry, Manipal Hospital Diagnostic Services, Manipal Hospital, HAL Airport Road, Bangalore, 560 017 India.
authors.forename: Vijay S
authors.initials: VS
authors.lastname: Bhat
authors.forename: Amit Kumar
authors.initials: AK
authors.lastname: Mandal
authors.forename: Bobby
authors.initials: B
authors.lastname: Mathew
keywords: Hemoglobin D-Iran; High performance liquid chromatography; Mass spectrometry; Matrix assisted laser desorption ionization mass spectrometry; Reverse dot blot hybridization
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