Background and objective: The glycated hemoglobin (HbA1c) test by high performance liquid chromatography is a useful tool for the follow-up of diabetes mellitus patients. Some structural hemoglobin (Hb) variants are known to cause interference in the analytical measurement of HbA1c.
Patients and methods: In this study, it has been characterized a new Hb variant in 4 patients during their regular control of HbA1c.
Results: Selective α1 gene sequencing showed a mutation GAC>AAC at codon 64 within exon 2. This produces a change of aspartic acid (Asp) by asparagine (Asn) that does not produce any functional alteration so the resultant molecule behaves as a silent hemoglobinopathy.
Conclusion: The structural Hb variants can be detected during the analysis of HbA1c and may alter its values. Though rare, this occurrence signals the need to being aware when measuring HbA1c.
Keywords: Diabetes mellitus; Glycated hemoglobin; Hemoglobina glucosilada; Hemoglobinopatía estructural; Secuenciación; Sequencing; Structural hemoglobinopathy.
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