title: A novel double heterozygous, HbD Punjab/HbQ India, hemoglobinopathy.
abstract: BACKGROUND
  Hemoglobinopathies and thalassemias together form the most common genetic disease in the world. Double heterozygosity, in which there is a hemoglobin variant, in both the α- and non-α globin chains, is very unusual. A novel double heterozygosity of the α chain variant HbQ India with the non-α chain HbD Punjab is described.
  
  
  METHODS
  The index case is a 39 year old female of Indian origin. HPLC analysis using the Bio Rad β thalassemia method and electrophoresis at both alkaline and acid pH were performed.
  
  
  RESULTS
  HPLC shows four major bands and electrophoresis at alkaline pH shows 3 bands and 2 bands at acid pH.
  
  
  CONCLUSIONS
  Both the HPLC and electrophoresis at alkaline and acid pH are consistent for the double heterozygous hemoglobin variants HbQ India and HbD Punjab.
  
  
  CONCLUSIONS
  This is the first literature report of the double heterozygosity of HbQ India/HbD Punjab.
authors.affiliation: DynaLIFEDx, Edmonton, Alberta. trefor.higgins@dynalifedx.com
authors.forename: Trefor
authors.initials: T
authors.lastname: Higgins
authors.forename: Kareena
authors.initials: K
authors.lastname: Schnabl
authors.forename: Margo
authors.initials: M
authors.lastname: Savoy
authors.forename: Pamela
authors.initials: P
authors.lastname: Rowe
authors.forename: Marco
authors.initials: M
authors.lastname: Flamini
authors.forename: Sunil
authors.initials: S
authors.lastname: Bananda
mesh_terms: D002851:Chromatography, High Pressure Liquid; D004586:Electrophoresis; D005260:Female; D006453:Hemoglobinopathies / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007194:India
chemical_list: D006455:Hemoglobins, Abnormal; C099422:hemoglobin Q; C048600:hemoglobin Q India; C026237:hemoglobin D Punjab