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Inicio Medicina Clínica (English Edition) Hb Burgos (α1 CD64(E13)(Asp→Asn)): A new hemoglobin variant detected during f...
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Vol. 144. Issue 1.
Pages 26-29 (January 2015)
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Vol. 144. Issue 1.
Pages 26-29 (January 2015)
Clinical report
DOI: 10.1016/j.medcle.2014.07.001
Hb Burgos (α1 CD64(E13)(Asp→Asn)): A new hemoglobin variant detected during follow-up of diabetic patients
Hb Burgos (α1 CD64(E13)(Asp→Asn)): una nueva variante de hemoglobina detectada durante la monitorización de pacientes con diabetes
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Félix de la Fuente-Gonzaloa,
Corresponding author
felixfuenteg@hotmail.com

Corresponding author.
, Jorge Martínez Nietoa, María José Torrejónb, Luis Antonio Mayorc, Diego Velascod, Fernando Ataulfo González Fernándeza, Paloma Ropero Gradillaa
a Servicio de Hematología y Hemoterapia, Hospital Clínico San Carlos, Madrid, Spain
b Servicio de Análisis Clínicos, Hospital Clínico San Carlos, Madrid, Spain
c Servicio de Hematología, Hospital Reina Sofía, Tudela, Navarra, Spain
d Laboratorio BR Salud, Madrid, Spain
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Table 1. Haematological and genotype parameters for study subjects.
Abstract
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.

Keywords:
Structural haemoglobinopathy
Glycated haemoglobin
Sequencing
Diabetes mellitus
Resumen
Fundamento y objetivo

El control de la diabetes mellitus se realiza mediante la determinación de hemoglobina glucosilada (HbA1c) por cromatografía líquida de alta resolución. Algunas variantes estructurales de la hemoglobina (Hb) son conocidas por causar interferencia analítica en la medición de la HbA1c.

Pacientes y métodos

En este estudio se ha caracterizado una nueva variante de Hb en 4 pacientes, que se detectó al realizarse un control de HbA1c.

Resultados

La secuenciación selectiva del gen α1 mostró una mutación responsable del cambio de ácido aspártico (Asp) por asparagina (Asn) en el codón 64. El cambio de Asp por Asn no produce ninguna alteración funcional de la Hb y se comporta como una hemoglobinopatía silente.

Conclusión

Las variantes estructurales de la Hb se pueden detectar durante la medición de la HbA1c y pueden alterar sus valores. Estos casos, aunque poco frecuentes, requieren examinar a fondo los cromatogramas para detectar posibles interferencias.

Palabras clave:
Hemoglobinopatía estructural
Hemoglobina glucosilada
Secuenciación
Diabetes mellitus

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