What question did this study set out to answer?

This study aims to provide comprehensive data on transfusion-dependent beta-thalassemia in Spain and to characterize its molecular aspects.

Beta‐Thalassemia in Spain: Results From the National Thalassemia Registry and Molecular Analysis of Patients With Transfusion‐Dependent Thalassemia

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Observational study analyzes transfusion-dependent thalassemia in Spain, revealing genetic diversity and management insights.

This study aims to provide comprehensive data on transfusion-dependent beta-thalassemia in Spain and to characterize its molecular aspects.
Analyzed data from the National Thalassemia Registry of the Spanish Society of Hematology from November 2022 to February 2025.
Included 147 patients with beta-thalassemia across 42 hospitals, focusing on 78 patients with transfusion-dependent thalassemia.
Conducted molecular analysis of HBB and HBA genes using Sanger sequencing and next-generation sequencing.
Mean age of transfusion-dependent thalassemia patients was 34.3 years, with 73.1% of Spanish origin.
Patients received a mean of 31.4 packed red blood cell units annually; 35.9% had undergone splenectomy.
Identified 24 different HBB mutations, with the most common accounting for 75% of alleles; patients with β + /β + genotypes had lower ferritin levels.

Villegas et al. (2026) studied this question.

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View Full Paper

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Authors

Observational study analyzes transfusion-dependent thalassemia in Spain, revealing genetic diversity and management insights.

This study aims to provide comprehensive data on transfusion-dependent beta-thalassemia in Spain and to characterize its molecular aspects.
Analyzed data from the National Thalassemia Registry of the Spanish Society of Hematology from November 2022 to February 2025.
Included 147 patients with beta-thalassemia across 42 hospitals, focusing on 78 patients with transfusion-dependent thalassemia.
Conducted molecular analysis of HBB and HBA genes using Sanger sequencing and next-generation sequencing.
Mean age of transfusion-dependent thalassemia patients was 34.3 years, with 73.1% of Spanish origin.
Patients received a mean of 31.4 packed red blood cell units annually; 35.9% had undergone splenectomy.
Identified 24 different HBB mutations, with the most common accounting for 75% of alleles; patients with β + /β + genotypes had lower ferritin levels.

Villegas et al. (2026) studied this question.

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