Beta-Thalassemia in Spain: Results From the National Thalassemia Registry and Molecular Analysis of Patients With Transfusion-Dependent Thalassemia.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
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, Riso Laura Lo, 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
Аннотация
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% β0/β0, 30.3% β0/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.