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

JOURNAL OF CLINICAL LABORATORY ANALYSIS  WILEY

Tipo:
Article
Páginas:
-
PubMed:
42226707
Enlace a otro recurso:
www.scopus.com
Factor de Impacto:
0,546 SCImago ℠
Cuartil:
Q2 SCImago ℠

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Keywords

  • beta-thalassemia; HBB mutations; molecular genetics; national registry; transfusion-dependent thalassemia

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