Insights Into Hemoglobinopathies in Spain: A Comprehensive Review

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EJHaem Pub Date : 2025-10-04 DOI:10.1002/jha2.70093

Joan-Lluis Vives Corrons

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Abstract

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.

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洞察血红蛋白病在西班牙：一个全面的审查

由于移民和历史遗传模式，血红蛋白病，包括地中海贫血和镰状细胞病（SCD），在西班牙越来越普遍。尽管最近在筛查和护理方面取得了进展，但诊断和治疗方面的地区差异仍然存在。目的：批判性地评估西班牙血红蛋白病的现状，重点关注筛查方案的实施、医疗保健的可及性、治疗创新以及以患者为中心的结果的整合。方法本综述综合了来自国家登记、最近同行评议的出版物和卫生政策文件的数据，对西班牙血红蛋白病的临床、流行病学和公共卫生方面进行了多学科分析。结果西班牙已逐步实施新生儿SCD和地中海贫血筛查方案，存在很大的地区差异。包括基因编辑方法在内的创新疗法正在试点，但由于成本和基础设施的限制，可获得性仍然有限。多国合作和国家登记改善了患者监测和循证护理，尽管保健不平等现象依然存在。结论：西班牙在血红蛋白病的诊断、治疗和研究方面的努力是显著的，但需要采取进一步的行动，以确保公平的医疗保健机会，基因治疗的伦理整合，并将患者报告的结果纳入临床决策。试验注册：作者已确认本次提交不需要临床试验注册。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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EJHaem

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