Abstract | 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: CONCLUSIONS:
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Authors | Karina Rodríguez-Capote, Mathew P Estey, Vilte Barakauskas, Pierre Bordeleau, Cathie-Lou Christensen, Peter Zuberbuhler, Trefor N Higgins |
Journal | Clinical biochemistry
(Clin Biochem)
Vol. 48
Issue 13-14
Pg. 904-7
(Sep 2015)
ISSN: 1873-2933 [Electronic] United States |
PMID | 26036869
(Publication Type: Journal Article)
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Copyright | Copyright © 2015 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved. |
Chemical References |
- Hemoglobins, Abnormal
- hemoglobin Fontainebleau
- Ferritins
- hemoglobin D Punjab
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Topics |
- Blood Cell Count
- Chromatography, High Pressure Liquid
- Ferritins
(blood)
- Hemoglobinopathies
(blood, genetics)
- Hemoglobins, Abnormal
(genetics)
- Heterozygote
- Humans
- Infant
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