Hb Burgos (α1 CD64(E13)(Asp→Asn)): A new hemoglobin variant detected during follow-up of diabetic patients
| Autor: | Luis Antonio Mayor, Paloma Ropero Gradilla, Jorge M. Nieto, Félix de la Fuente-Gonzalo, María José Torrejón, Diego Velasco, Fernando Ataulfo González Fernández |
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| Rok vydání: | 2015 |
| Předmět: |
Male
medicine.medical_specialty Genotype endocrine system diseases Hemoglobins Abnormal Mutation Missense medicine.disease_cause Exon chemistry.chemical_compound alpha-Globins Diabetes mellitus Aspartic acid Diabetes Mellitus medicine Humans Point Mutation Asparagine Codon Chromatography High Pressure Liquid Aged Aged 80 and over Glycated Hemoglobin CD64 Mutation business.industry nutritional and metabolic diseases Hemoglobin variants Exons Sequence Analysis DNA Chromatography Ion Exchange medicine.disease Molecular biology Surgery Amino Acid Substitution chemistry Glycated hemoglobin Artifacts business |
| Zdroj: | Medicina Clínica (English Edition). 144:26-29 |
| ISSN: | 2387-0206 |
| DOI: | 10.1016/j.medcle.2014.07.001 |
| Popis: | Background and objective The glycated haemoglobin (HbA1c) test by high performance liquid chromatography is a useful tool for the follow-up of diabetes mellitus patients. Some structural haemoglobin (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 haemoglobinopathy. 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. |
| Databáze: | OpenAIRE |
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