Cation-exchange HPLC evaluated for presumptive identification of hemoglobin variants

A battery of relatively simple tests allows the presumptive identification of hemoglobin (Hb) variants, making unnecessary structural analysis by protein chemistry methods or DNA sequencing. The primary step in this strategy involves the use of a matrix of electrophoretic mobilities obtained under v...

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Bibliographic Details
Published in:Clinical chemistry (Baltimore, Md.) Md.), 1997-01, Vol.43 (1), p.34-39
Main Authors: Riou, Jean, Godart, Christian, Hurtrel, Didier, Mathis, Mireille, Bimet, Catherine, Bardakdjian-Michau, Josiane, Prehu, Claude, Wajcman, Henri, Galacteros, Frederic
Format: Article
Language:English
Subjects:
Anemias. Hemoglobinopathies
beta-Thalassemia - blood
Biological and medical sciences
Cations
Chromatography, High Pressure Liquid - methods
Chromatography, Ion Exchange
Diseases of red blood cells
Fetal Hemoglobin - analysis
Globins - chemistry
Globins - genetics
Hematologic and hematopoietic diseases
Hemoglobin A2 - analysis
Hemoglobin C - analysis
Hemoglobin E - analysis
Hemoglobin, Sickle - analysis
Hemoglobins, Abnormal - analysis
Hemoglobins, Abnormal - chemistry
Hemoglobins, Abnormal - genetics
Humans
Isoelectric Focusing
Medical sciences
Mutation
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Summary:A battery of relatively simple tests allows the presumptive identification of hemoglobin (Hb) variants, making unnecessary structural analysis by protein chemistry methods or DNA sequencing. The primary step in this strategy involves the use of a matrix of electrophoretic mobilities obtained under various experimental conditions. This leads to an unambiguous result in approximately 90% of the cases. Additional tests are required to characterize with more confidence the remaining 10%. We describe here the use of cation-exchange HPLC on the Bio-Rad Variant automated analyzer with the "beta Thalassemia Short" program. By comparing the elution time of 125 human Hb mutants, we found that some variants with almost identical pI values or produced by the same type of amino acid substitution displayed different elution times. We present several examples in which use of the HPLC profile helped establish the diagnosis.
ISSN:0009-9147
1530-8561
DOI:10.1093/clinchem/43.1.34