Insights Into Hemoglobinopathies in Spain: A Comprehensive Review

Background

Hemoglobinopathies, including thalassemia and sickle cell disease (SCD), are increasingly prevalent in Spain due to migration and historical genetic patterns. Despite recent advances in screening and care, regional disparities in diagnosis and treatment persist.

Objectives

To critically assess the current landscape of hemoglobinopathies in Spain, focusing on screening program implementation, healthcare access, therapeutic innovations, and the integration of patient-centered outcomes.

Methods

This review synthesizes data from national registries, recent peer-reviewed publications, and health policy documents, offering a multidisciplinary analysis of clinical, epidemiological, and public health dimensions of hemoglobinopathies in Spain.

Results

Spain has progressively implemented neonatal screening programs for SCD and thalassemias, with substantial regional variation. Innovative treatments, including gene-editing approaches, are being piloted, yet accessibility remains limited by cost and infrastructure. Multinational collaborations and national registries have improved patient monitoring and evidence-based care, although healthcare inequalities persist.

Conclusions

Spain's efforts in diagnosis, treatment, and research of hemoglobinopathies have been significant, but further action is needed to ensure equitable healthcare access, ethical integration of gene therapies, and incorporation of patient-reported outcomes into clinical decision-making.

Trial Registration:

The author has confirmed clinical trial registration is not needed for this submission.