2026/08/04 by María-Angustias Molina-Arrebola, Alicia Sánchez-Crespo, Ana-María Alarcón-Gallo +3
paper · doi:10.1093/labmed/lmag045
crossref created 2026/07/13 · crossref issued 2026/08/04 · crossref published 2026/08/04 · crossref published-online 2026/08/04 · crossref published-print 2026/08/04 · crossref deposited 2026/08/04 · crossref indexed 2026/08/04
Abstract Introduction Hemoglobinopathies are a heterogeneous group of inherited disorders whose prevalence and phenotypic spectrum are influenced by population dynamics and diagnostic strategies. Longitudinal data from nonendemic European regions remain scarce. Methods We conducted a retrospective longitudinal analysis of hemoglobinopathies diagnosed at a regional hospital in southern Spain over a 30-year period (1996-2025). Diagnoses were classified as thalassemia syndromes or structural hemoglobin variants and analyzed according to the native or migrant origin of the patient. Temporal trends were assessed in relation to demographic changes and evolving laboratory methods. Results A total of 5340 hemoglobinopathies were identified: 1716 (32.1%) thalassemias and 3624 (67.9%) structural variants. Migrant patients accounted for 83.8% of diagnoses. Thalassemias predominated among native patients (88.1%), whereas structural variants, particularly hemoglobin S, predominated in migrant patients (78.6%). Annual diagnoses increased more than 5-fold during the study period, particularly after systematic high-performance liquid chromatography screening was introduced in 2008, with cases among migrant patients showing a strong linear trend (R2 = 0.86). Discussion This 30-year experience demonstrates a major shift in the epidemiology and diagnosis of hemoglobinopathies in southern Spain. Migration and advances in laboratory diagnostics have increased the detection of structural variants and complex genotypes, highlighting the need for continuously updated diagnostic algorithms in increasingly diverse populations.