title: A novel double heterozygous Hb Fontainebleau/HbD Punjab hemoglobinopathy.
abstract: OBJECTIVE
  To report the finding of a novel double heterozygous hemoglobinopathy, the coinheritance of Hb Fontainebleau (α-chain variant) with HbD-Punjab (β-chain variant) discovered upon investigation of unexplained microcytosis in an infant.
  
  
  METHODS
  Hemoglobinopathy investigation was performed by high performance liquid chromatography (HPLC) using the β-thalassemia Short Program on the Bio-Rad Variant II(TM) followed by gel electrophoresis at alkaline and acid pH (Sebia Hydrasys 2 Electrophoresis System) and molecular diagnostic testing. This study complied with our institutional board ethics requirements.
  
  
  RESULTS
  HPLC and electrophoresis suggested a complex α- and β-chain hemoglobinopathy with presumptive identification of the beta Hb variant as Hb D-Punjab. DNA sequencing analysis revealed the presence of a double heterozygous status for Hb Fontainebleau/Hb D-Punjab.
  
  
  CONCLUSIONS
  In this paper we report the coinheritance of Hb Fontainebleau with Hb D-Punjab.
authors.affiliation: DynaLIFE(DX) Diagnostic Laboratory Services, Edmonton, Alberta, Canada; Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada. Electronic address: karina.capote@dynalifedx.com.
authors.forename: Karina
authors.initials: K
authors.lastname: Rodríguez-Capote
authors.affiliation: DynaLIFE(DX) Diagnostic Laboratory Services, Edmonton, Alberta, Canada; Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada.
authors.forename: Mathew P
authors.initials: MP
authors.lastname: Estey
authors.affiliation: DynaLIFE(DX) Diagnostic Laboratory Services, Edmonton, Alberta, Canada; Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada.
authors.forename: Vilte
authors.initials: V
authors.lastname: Barakauskas
authors.affiliation: DynaLIFE(DX) Diagnostic Laboratory Services, Edmonton, Alberta, Canada.
authors.forename: Pierre
authors.initials: P
authors.lastname: Bordeleau
authors.affiliation: DynaLIFE(DX) Diagnostic Laboratory Services, Edmonton, Alberta, Canada.
authors.forename: Cathie-Lou
authors.initials: CL
authors.lastname: Christensen
authors.affiliation: Department of Pediatric Respiratory Medicine, Alberta Health Services, Edmonton, Alberta, Canada.
authors.forename: Peter
authors.initials: P
authors.lastname: Zuberbuhler
authors.affiliation: DynaLIFE(DX) Diagnostic Laboratory Services, Edmonton, Alberta, Canada; Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada.
authors.forename: Trefor N
authors.initials: TN
authors.lastname: Higgins
mesh_terms: D001772:Blood Cell Count; D002851:Chromatography, High Pressure Liquid; D005293:Ferritins / Q000097:blood; D006453:Hemoglobinopathies / Q000097:blood / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant
chemical_list: D006455:Hemoglobins, Abnormal; C062066:hemoglobin Fontainebleau; D005293:Ferritins; C026237:hemoglobin D Punjab
keywords: Double heterozygosity; HPLC; Hb D-Punjab; Hb Fontainebleau; Hemoglobin variant; Hemoglobinopathy; Microcytosis