| Autor: |
Elena, Cela, José M, Bellón, María, de la Cruz, Cristina, Beléndez, Rubén, Berrueco, Anna, Ruiz, Izaskun, Elorza, Cristina, Díaz de Heredia, Aurea, Cervera, Griselda, Vallés, J Antonio, Salinas, M Teresa, Coll, Mar, Bermúdez, Marta, Prudencio, Bienvenida, Argilés, Cruz, Vecilla |
| Rok vydání: |
2016 |
| Předmět: |
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| Zdroj: |
Pediatric bloodcancer. 64(7) |
| ISSN: |
1545-5017 |
| Popis: |
Although highly prevalent throughout the world, the accurate prevalence of hemoglobinopathies in Spain is unknown.This study presents data on the national registry of hemoglobinopathies of patients with thalassemia major (TM), thalassemia intermedia (TI), and sickle cell disease (SCD) in Spain created in 2014. Fifty centers reported cases retrospectively. Data were registered from neonatal screening or from the first contact at diagnosis until last follow-up or death.Data of the 715 eligible patients were collected: 615 SCD (497 SS, 64 SC, 54 SBeta phenotypes), 73 thalassemia, 9 CC phenotype, and 18 other variants. Most of the SCD patients were born in Spain (65%), and 51% of these were diagnosed at newborn screening. Median age at the first diagnosis was 0.4 years for thalassemia and 1.0 years for SCD. The estimated incidence was 0.002 thalassemia cases and 0.03 SCD cases/1,000 live births. Median age was 8.9 years (0.2-33.7) for thalassemia and 8.1 years (0.2-32.8) for SCD patients. Stroke was registered in 16 SCD cases. Transplantation was performed in 43 TM and 23 SCD patients at a median age of 5.2 and 7.8 years, respectively. Twenty-one patients died (3 TM, 17 SCD, 1 CC) and 200 were lost to follow-up. Causes of death were related to transplantation in three patients with TM and three patients with SCD. Death did not seem to be associated with SCD in six patients, but nine patients died secondary to disease complications. Overall survival was 95% at 15 years of age.The registry provides data about the prevalence of hemoglobinopathies in Spain and will permit future cohort studies and the possibility of comparison with other registries. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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