2026-04-17T06:53:35Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/104542025-10-24T10:42:20Zcom_2072_378070com_2072_378040col_2072_378092

00925njm 22002777a 4500 dc Lahoz, Raquel author Romero Sánchez, Naiara author González Sánchez, Ruth author Escobar Medina, Antonia author López Martos, Aurora M. author Domínguez García, Marta author Prieto Grueso, Montserrat author Blanco, Adoracion author Urban Giral, Susana author Beneitez Pastor, David author 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. http://hdl.handle.net/11351/10454 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 Incidental finding of rare hemoglobin: hemoglobin Bari in northeast Spain