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Case Reports
Structural hemoglobinopathies: Analysis of 128 cases and their relevance in the diabetic control.
- Fernando Marques-Garcia.
- Clinical Biochemistry Department, Clinical University Hospital of Salamanca, Salamanca, Spain. Electronic address: f.marg@hotmail.es.
- Med Clin (Barc). 2022 Feb 11; 158 (3): 118-121.
Background And ObjectivesHemoglobinopathies 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 MethodsTotal 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.ResultsWe 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).ConclusionsOur 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.Copyright © 2020 Elsevier España, S.L.U. All rights reserved.
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