Back to Search
Start Over
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation
- Source :
- Pediatric Blood & Cancer. 62:1597-1600
- Publication Year :
- 2015
- Publisher :
- Wiley, 2015.
-
Abstract
- Background Diamond Blackfan anemia (DBA) is a genetically and clinically heterogeneous ribosomopathy and inherited bone marrow failure syndrome characterized by anemia, reticulocytopenia, and decreased erythroid precursors in the bone marrow with an increased risk of malignancy and, in approximately 50%, physical abnormalities. Methods We retrospectively analyzed clinical data from 77 patients with DBA born in the Russian Federation from 1993 to 2014. In 74 families there was one clinically affected individual; in only three instances a multiplex family was identified. Genomic DNA from 57 DBA patients and their first-degree relatives was sequenced for mutations in RPS19, RPS10, RPS24, RPS26, RPS7, RPS17, RPL5, RPL11, RPL35a, and GATA1. Results Severe anemia presented before 8 months of age in all 77 patients; before 2 months in 61 (78.2%); before 4 months in 71 (92.2%). Corticosteroid therapy was initiated after 1 year of age in the majority of patients. Most responded initially to steroids, while 5 responses were transient. Mutations in RP genes were detected in 35 of 57 patients studied: 15 in RPS19, 6 in RPL5, 3 in RPS7, 3 each in RPS10, RPS26, and RPL11 and 1 each in RPS24 and RPL35a; 24 of these mutations have not been previously reported. One patient had a balanced chromosomal translocation involving RPS19. No mutations in GATA1 were found. Conclusion In our cohort from an ethnically diverse population the distribution of mutations among RP genes was approximately the same as was reported by others, although within genotypes most of the mutations had not been previously reported. Pediatr Blood Cancer 2015;62:1597–1600. © 2015 Wiley Periodicals, Inc.
- Subjects :
- education.field_of_study
medicine.medical_specialty
Hematology
business.industry
Anemia
Population
medicine.disease
medicine.anatomical_structure
Oncology
Ribosomal protein S19
Internal medicine
Pediatrics, Perinatology and Child Health
Genotype
Immunology
medicine
Reticulocytopenia
Bone marrow
Diamond–Blackfan anemia
education
business
Subjects
Details
- ISSN :
- 15455009
- Volume :
- 62
- Database :
- OpenAIRE
- Journal :
- Pediatric Blood & Cancer
- Accession number :
- edsair.doi...........453d9adc95806271b999902be34bfbb9