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Inicio Medicina Clínica Structural hemoglobinopathies: Analysis of 128 cases and their relevance in the ...
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Vol. 158. Issue 3.
Pages 118-121 (February 2022)
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Vol. 158. Issue 3.
Pages 118-121 (February 2022)
Brief report
Structural hemoglobinopathies: Analysis of 128 cases and their relevance in the diabetic control
Hemoglobinopatías estructurales: análisis de 128 casos y su relevancia en el control de la diabetes
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Fernando Marques-Garcia
Clinical Biochemistry Department, Clinical University Hospital of Salamanca, Salamanca, Spain
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Tables (2)
Table 1. Summary of the study population statistics, based on age. They represent both the statistical parameters (a), and the percentiles distribution (b), for the total sample as segregated by sex.
Table 2. Different variants identified in our laboratory. In addition to the variant, the percentage of each to the total of identified and typical retention time observed in the chromatogram shown.
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Abstract
Background and objectives

Hemoglobinopathies are monogenic disorders with autosomal recessive inheritance. In Europe, with increased migration flows these conditions are appearing more frequently in non-endemic regions. HbA1c testing is useful for evaluating long-term glycaemic status in diabetes mellitus patients. During HbA1c evaluation, other hemoglobin fractions are detected, such as structural hemoglobinopathies. The principal objective of this work is to study the incidence of structural hemoglobinopathies in our area and their management.

Material and methods

Total population of 65,000 patients for glycaemic monitoring was evaluated with HPLC equipment (HPLC-ARKRAY® ADAMS, Menarini Diagnostics, Italy). This equipment quantifies different hemoglobin fractions.

Results

We identified a total of 128 variants, representing an incidence with respect to the study population of 0.19% (1.97‰). Most (69) were identified in the foreign population, and the most frequent variant identified was heterozygous S hemoglobinopathy. In six families, structural hemoglobinopathy was identified. Three patients with HbS/HbS were detected. Primary Health Centers were the origin of an important part of these variants (82).

Conclusions

Our study describes a low incidence for structural variants compared with the estimated incidence in Spain. These variants can interfere with HbA1c testing. In these cases, glycated protein study is an appropriate alternative to monitor diabetic therapy.

Keywords:
HbA1c
Hemoglobinopathies
Structural
Chromatography
Incidence
Interference
Abbreviations:
HPLC
HbA1c
HbE
HbD
HbF
VCM
Resumen
Antecedentes y objetivos

Las hemoglobinopatías son trastornos monogénicos de herencia autosómica recesiva. En Europa se están incrementando los flujos migratorios, con mayor frecuencia de estas alteraciones en regiones no endémicas. La determinación del valor HbA1c es útil para evaluar el estatus glucémico a largo plazo en pacientes diabéticos. Durante la evaluación de la HbA1c, se detectan otras fracciones de la hemoglobina, tales como las hemoglobinopatías estructurales. El objetivo principal de este estudio fue estudiar la incidencia de hemoglobinopatías estructurales en nuestra zona, así como su manejo.

Material y métodos

Se evaluó la monitorización glucémica en una población total de 65.000 pacientes utilizando el equipo HPLC (HPLC-ARKRAY® ADAMS, Menarini Diagnostics, Italia), el cual cuantifica diferentes fracciones de la hemoglobina.

Resultados

Identificamos un total de 128 variantes, que representan una incidencia con respecto a la población de estudio del 0,19% (1,97‰). La mayoría de ellas (69) fueron identificadas en la población extranjera, siendo el heterocigoto hemoglobina S la variante más frecuente. En 6 familias se identificaron hemoglobinopatías estructurales. Se detectaron 3 pacientes con HbS/HbS. Los centros de atención primaria fueron el origen de una parte importante de estas variantes (82).

Conclusiones

Nuestro estudio describe una baja incidencia de variantes estructurales, en comparación con la incidencia estimada en España. Dichas variantes pueden interferir en la determinación del valor de la HbA1c. En dichos casos el estudio de las proteínas glicosiladas es una alternativa adecuada para supervisar la terapia diabética.

Palabras clave:
HbA1c
Hemoglobinopatías
Estructural
Cromatografía
Incidencia
Interferencia

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