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A novel double heterozygous Hb Fontainebleau/HbD Punjab hemoglobinopathy

Karina Rodríguez-Capote¹, Mathew P Estey¹, Vilte Barakauskas¹

¹DynaLIFE(DX) Diagnostic Laboratory Services, Edmonton, Alberta, Canada; Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, Alberta, Canada.

Clinical Biochemistry

|June 4, 2015

Objectives:

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.

Keywords:

Double heterozygosity HPLC Hb D-Punjab Hb Fontainebleau Hemoglobin variant Hemoglobinopathy Microcytosis

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