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Comparison of the protein and DNA approaches for the characterization of a β-globin chain variant, hemoglobin Cocody [β21 (B3) Asp- → Asn], in a Caucasian patient

Summary

Over the past few years, the methodologies used for the identification of hemoglobin A variants have been greatly improved. Both the protein- and DNA-based strategies have their own advantages and limitations. In this report we illustrate the use of both assays for the characterization of a hemoglobin Cocody variant in a woman of Spanish descent. After evaluating the mobility value matrix of the abnormal hemoglobin, the amino acid transition was determined by HPLC and microsequencing of the protein. Theβ 21 Asp was shown to be substituted by an Asn. At the DNA level, the only nucleotide replacement responsible for this amino acid substitution is GAT- → AAT at codon 21. The analysis of theβ-globin gene by denaturing gradient gel electrophoresis (DGGE) method showed that the mutation was situated in a fragment including exon 1. The hemoglobin variant was then identified to be hemoglobin Cocody by DNA sequencing of this fragment.

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Correspondence to P. Aguilar-Martinez.

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Aguilar-Martinez, P., Galacteros, F., Schved, J.F. et al. Comparison of the protein and DNA approaches for the characterization of a β-globin chain variant, hemoglobin Cocody [β21 (B3) Asp- → Asn], in a Caucasian patient. Ann Hematol 66, 269–272 (1993). https://doi.org/10.1007/BF01738480

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Key words

  • Hemoglobin Cocody
  • Denaturing gradient gel electrophoresis
  • β-Globin protein characterization