Sistema de Salut de Catalunya
Institut Català de la Salut
[Lahoz Alonso R, Romero Sánchez N, González Sánchez R, Escobar Medina A, López Martos AM] Servicio de Análisis Clínicos, Hospital Ernest Lluch, Zaragoza, Spain. [Domínguez García M] Atención Primaria, Centro de Salud Daroca, Calle Luchente, Daroca, Zaragoza, Spain. Centro de Salud Calatayud Sur, Calatayud, Zaragoza, Spain. [Beneitez Pastor D] Servei d’Hematologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Prieto Grueso M] Servei de Laboratoris Clínics, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Blanco Álvarez A] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Servei d’Hematologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Urban Giralt S] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Servei de Laboratoris Clínics, Vall d’Hebron Hospital Universitari, Barcelona, Spain
Vall d'Hebron Barcelona Hospital Campus
2023-10-16T11:49:29Z
2023-10-16T11:49:29Z
2023-09
Hemoglobin Bari
Hemoglobina Bari
Hemoglobina Bari
Objectives Cation exchange high-performance liquid chromatography (HPLC) is one of the techniques available for determining glycated hemoglobin (HbA1c) and also the method of choice for structural hemoglobinopathies screening. The objective of this case is to show how in a routine HbA1c test it is possible to incidentally find a hemoglobinopathy. Case presentation In a routine blood analysis, an abnormal value for the hemoglobin A2 (HbA2) was obtained during the study of HbA1c with HPLC on the ADAMS™ A1c HA-8180T. After suspecting it could be due to the presence of a hemoglobinopathy, the study of possible variants was expanded using electrophoresis and HPLC on the Hydrasys and Variant II analysers, respectively. Since it could not be identified by these conventional methods, a genetic study was also carried out using Sanger sequencing. The patient presented a low HbA2 (1.3 %) and a 24.9 % variant with a retention time of 1.95 min, compatible with alpha-globin chain variant. In the genetic study, the pathogenic variant c.138C>G was detected in the HbA 2 gene in heterozygosis, which resulted in the expression of the structural hemoglobinopathy known as hemoglobin Bari. Conclusions The initial screening for structural hemoglobinopathies allows its identification or suspicion especially when it was performed with HbA1c analysis, requiring subsequent confirmation and diagnosis by other techniques.
Article
Published version
English
Hemoglobinopatia - Diagnòstic; Cromatografia de líquids d'alta resolució; DISEASES::Hemic and Lymphatic Diseases::Hematologic Diseases::Hemoglobinopathies; Other subheadings::Other subheadings::/diagnosis; ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Chemistry Techniques, Analytical::Chromatography::Chromatography, Liquid::Chromatography, High Pressure Liquid; ENFERMEDADES::enfermedades hematológicas y linfáticas::enfermedades hematológicas::hemoglobinopatías; Otros calificadores::Otros calificadores::/diagnóstico; TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::técnicas de química analítica::cromatografía::cromatografía líquida::cromatografía líquida de alta presión
De Gruyter
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio;4(3)
https://doi.org/10.1515/almed-2023-0040
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
Articles científics - HVH [3439]
