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The goal of this observational study is to analyze the data included in the Spanish Registry of Patients with Fanconi anemia to better understand the natural history of the disease, identify genetic risk and prognostic factors, and identify potential therapeutic strategies.
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| Measure | Description | Time Frame |
|---|---|---|
| Description of the clinical evolution of the patient | Study the clinical evolution of patients with Fanconi anemia | 1 month |
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Inclusion Criteria:
Exclusion Criteria:
-
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Patients with Fanconi anemia included in the Spanish Registry
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| Name | Affiliation | Role |
|---|---|---|
| Jordi Surrallés, PhD | Institut de Recerca Sant Pau (IR SANT PAU), Barcelona, Spain | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau - IIB Sant Pau | Barcelona | 08041 | Spain |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 39562502 | Derived | Ramirez MJ, Pujol R, Minguillon J, Bogliolo M, Persico I, Cavero D, de la Cal A, Rio P, Navarro S, Casado JA, Bailador A, de la Fuente AS, de Heredia ML, Almazan F, Antelo ML, Argiles B, Badell I, Baragano M, Belendez C, Bermudez M, Bernues M, Buedo MI, Carrasco E, Catala A, Costa D, Cuesta I, Fernandez-Delgado R, Fernandez-Teijeiro A, Figuera A, Garcia M, Gondra A, Gonzalez M, Muniz SG, Hernandez-Rodriguez I, Ibanez F, Kelleher NJ, Lendinez F, Lopez M, Lopez-Almaraz R, Marchante I, Mendoza C, Nieto J, Ojeda E, Payan-Pernia S, Pelaez I, de Soto IP, Portugal R, Ramos-Arroyo MA, Regueiro A, Rodriguez A, Rosell J, Saez R, Sanchez J, Sanchez M, Senent M, Tapia M, Trujillo-Quintero JP, Vagace JM, Verdu-Amoros J, Verdugo V, Vidales I, Villarreal J, Diaz-de-Heredia C, Sevilla J, Bueren JA, Surralles J. Prognostic significance of mutation type and chromosome fragility in Fanconi anemia. Am J Hematol. 2025 Feb;100(2):272-284. doi: 10.1002/ajh.27520. Epub 2024 Nov 19. |
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| ID | Term |
|---|---|
| D005199 | Fanconi Anemia |
| ID | Term |
|---|---|
| D029502 | Anemia, Hypoplastic, Congenital |
| D000741 | Anemia, Aplastic |
| D000740 | Anemia |
| D006402 | Hematologic Diseases |
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| D006425 |
| Hemic and Lymphatic Diseases |
| D000080984 | Congenital Bone Marrow Failure Syndromes |
| D000080983 | Bone Marrow Failure Disorders |
| D001855 | Bone Marrow Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D049914 | DNA Repair-Deficiency Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |