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

ABSTRACT Background Beta‐thalassemia is a genetically heterogeneous hemoglobinopathy with marked clinical variability. In Spain, comprehensive nationwide data on transfusion‐dependent beta‐thalassemia (TDT) remain limited, particularly regarding molecular characterization. Methods This observational...

Descripción completa

Detalles Bibliográficos
Autores: Villegas, Ana, Ropero, Paloma, González, Fernando Ataulfo, Morado, Marta, Menor, María, de la Iglesia, Silvia, López‐Rubio, Montserrat, Salido, Eduardo José, Abío, Mariola, Senent, María Leonor, Recasens, Valle, Vagace, José Manuel, Fonte, Cristina, Hernández‐Rivas, Jesús María, Raya, José María, Ríos, Pablo, Peri, Valeria Luciana, Herrera, Keneth A., Tenorio, María Concepción, Lo Riso, Laura, Tena, Juan, Molina, María Angustias, Vara, Miriam, Rodríguez, Isabel, Ricard, Pilar, Gómez, Miguel, Dusacovschi, Oana Popa, Vidán, Julia María, Groiss, Jorge, Ferre, Óscar, Orbe, Irene, López, Rosa María, Ugalde, Nazaret, Hidalgo, Manuela Inés, Hinojosa, Cristina, Rodríguez, Ana Isabel, Herrera, Esther, Murúzabal, María Josefa, del Carmen Hernández, María, Marco, Josefa Esperanza, Benavente, Celina, de Eritropatología, Grupo Español
Tipo de recurso: artículo
Fecha de publicación:2026
País:España
Institución:Conselleria de Salut i Consum del Govern de les Illes Balears
Repositorio:Docusalut
Idioma:inglés
OAI Identifier:oai:dnet:docusalut___::ae1b5a1793f9e1bf3e40ca6ae23121c9
Acceso en línea:https://hdl.handle.net/20.500.13003/27583
Access Level:acceso abierto
Palabra clave:HBB mutations
beta‐thalassemia
molecular genetics
national registry
transfusion‐dependent thalassemia
Descripción
Sumario:ABSTRACT Background Beta‐thalassemia is a genetically heterogeneous hemoglobinopathy with marked clinical variability. In Spain, comprehensive nationwide data on transfusion‐dependent beta‐thalassemia (TDT) remain limited, particularly regarding molecular characterization. Methods This observational study analyzed data from the National Thalassemia Registry of the Spanish Society of Hematology and Hemotherapy (SEHH). Between November 2022 and February 2025, 147 patients with beta‐thalassemia from 42 hospitals were registered; this report focuses on 78 patients with TDT. Clinical, transfusion, and biochemical data were collected, and molecular analysis of the HBB and HBA genes was performed using Sanger sequencing, next‐generation sequencing, and complementary techniques. Genotypes were classified according to the degree of beta‐globin synthesis reduction. Results The mean age of TDT patients was 34.3 years, and 73.1% were of Spanish origin. Patients received a mean of 31.4 packed red blood cell units per year. Splenectomy had been performed in 35.9% of cases. Most patients showed adequate iron overload control, with median serum ferritin levels below 1000 ng/mL. Twenty‐four different HBB mutations were identified; the most frequent were CD39 (C > T), IVS‐1‐nt1 (G > A), IVS‐1‐nt110 (G > A), IVS‐1‐nt6 (T > C), and IVS‐1‐nt1 (G > T), accounting for 75% of alleles. Genotype distribution was 55.2% β 0 /β 0 , 30.3% β 0 /β + , and 14.4% β + /β + . Patients with β + /β + genotypes had significantly lower ferritin levels. Conclusions This nationwide registry highlights the genetic and clinical heterogeneity of TDT in Spain and underscores the value of molecular characterization for patient management, genetic counseling, and future therapeutic strategies.

Similares en LA Referencia