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A novel double heterozygous Hb Fontainebleau/HbD Punjab hemoglobinopathy.

AbstractOBJECTIVES:
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.
DESIGN AND 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.
AuthorsKarina Rodríguez-Capote, Mathew P Estey, Vilte Barakauskas, Pierre Bordeleau, Cathie-Lou Christensen, Peter Zuberbuhler, Trefor N Higgins
JournalClinical biochemistry (Clin Biochem) Vol. 48 Issue 13-14 Pg. 904-7 (Sep 2015) ISSN: 1873-2933 [Electronic] United States
PMID26036869 (Publication Type: Journal Article)
CopyrightCopyright © 2015 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.
Chemical References
  • Hemoglobins, Abnormal
  • hemoglobin Fontainebleau
  • Ferritins
  • hemoglobin D Punjab
Topics
  • Blood Cell Count
  • Chromatography, High Pressure Liquid
  • Ferritins (blood)
  • Hemoglobinopathies (blood, genetics)
  • Hemoglobins, Abnormal (genetics)
  • Heterozygote
  • Humans
  • Infant

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