2026-04-13T01:15:22Zhttps://recercat.cat/oai/requestoai:recercat.cat:11351/104542025-10-24T10:42:20Zcom_2072_378070com_2072_378040col_2072_378092
2025-10-24T10:42:20Z
urn:hdl:11351/10454
Incidental finding of rare hemoglobin: hemoglobin Bari in northeast Spain
Lahoz, Raquel
Romero Sánchez, Naiara
González Sánchez, Ruth
Escobar Medina, Antonia
López Martos, Aurora M.
Domínguez García, Marta
Prieto Grueso, Montserrat
Blanco, Adoracion
Urban Giral, Susana
Beneitez Pastor, David
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
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.
2025-10-24T10:42:20Z
2025-10-24T10:42:20Z
2023-10-16T11:49:29Z
2023-10-16T11:49:29Z
2023-09
info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://hdl.handle.net/11351/10454
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/
info:eu-repo/semantics/openAccess
De Gruyter
Scientia