ArticleJournal of clinical laboratory analysis2026
First Report of Co-Inheritance of Hemoglobin British Columbia (HBB:c.304G>A) and β-Thalassemia IVS-I-6 (HBB:c.92+6T>C): Clinical Characterization of an Iranian Case.
Article in Journal of clinical laboratory analysis, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundHemoglobin British Columbia is a rare high-oxygen-affinity β-globin variant caused by the HBB:c.304G>A substitution. Its detection is exceptionally uncommon, particularly in the Middle East, and may lead to diagnostic pitfalls when relying solely on hemoglobin separation techniques. Precise molecular characterization is therefore essential for accurate differentiation from other hemoglobinopathies and for expanding knowledge of their regional distribution. CASE PRESENTATION: We report a 25-year-old asymptomatic Iranian male who was incidentally identified during routine premarital screening due to the presence of an unexpected hemoglobin band. Comprehensive evaluation was performed using capillary zone electrophoresis (CZE), targeted analysis of common α-globin deletions, full sequencing of the α- and β-globin genes, and long-range PCR for α-gene triplications.
resultsCZE revealed a major abnormal hemoglobin fraction (73.2%), with HbA at 21.7% and HbA
conclusionThis is the first documented case of co-inheritance of Hb British Columbia and the IVS-I-6 β-thalassemia mutation in Iran. The case underscores the crucial role of molecular diagnostics in resolving atypical electrophoretic patterns, preventing misclassification of rare hemoglobin variants, and enriching the understanding of the hemoglobinopathy spectrum in diverse populations.
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