Beta-Thalassemia in Spain: Results From the National Thalassemia Registry and Molecular Analysis of Patients With Transfusion-Dependent Thalassemia
Fecha de publicación:
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Villegas A.
- Ropero P.
- González F.A.
- Morado M.
- Menor M.
- de la Iglesia S.
- López-Rubio M.
- Salido E.J.
- Abío M.
- Recasens V.
- Vagace J.M.
- Fonte C.
- Hernández-Rivas J.M.
- Raya J.M.
- Ríos P.
- Peri V.L.
- Herrera K.A.
- Tenorio M.C.
- Riso L.L.
- Tena J.
- Molina M.A.
- Vara M.
- Rodríguez I.
- Ricard P.
- Gómez M.
- Dusacovschi O.P.
- Vidán J.M.
- Groiss J.
- Ferre Ó.
- Orbe I.
- López R.M.
- Ugalde N.
- Hidalgo M.I.
- Hinojosa C.
- Rodríguez A.I.
- Herrera E.
- Murúzabal M.J.
- del Carmen Hernández M.
- Marco J.E.
- Benavente C.
- de Eritropatología G.E.
Grupos
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% ß0/ß0, 30.3% ß0/ß+, and 14.4% ß+/ß+. Patients with ß+/ß+ 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. © 2026 The Author(s). Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC.
Datos de la publicación
- ISSN/ISSNe:
- 0887-8013, 1098-2825
- Tipo:
- Article
- Páginas:
- -
- DOI:
- 10.1002/jcla.70272
- PubMed:
- 42226707
- Enlace a otro recurso:
- www.scopus.com
- Factor de Impacto:
- 0,546 SCImago ℠
- Cuartil:
- Q2 SCImago ℠
JOURNAL OF CLINICAL LABORATORY ANALYSIS WILEY
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Filiaciones
Keywords
- beta-thalassemia; HBB mutations; molecular genetics; national registry; transfusion-dependent thalassemia
Portal de investigación