Evolution of hemoglobinopathy diagnosis over 30 years in southern Spain: impact of migration and laboratory screening strategies.

Authors

María-Angustias Molina-Arrebola, Alicia Sánchez-Crespo, Ana-María Alarcón-Gallo, Carmen Porrino-Herrera, Lucía Martínez-Carreras, Carlos González-Oller

Published in

Laboratory medicine. Volume 57. Issue 5. Aug 04, 2026.

Abstract

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.
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.
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).
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.

PMID:
42551921
Bibliographic data and abstract were imported from PubMed on 05 Aug 2026.

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