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Immunophenotypic Profiling of Erythroid Progenitor-Derived Extracellular Vesicles in Diamond-Blackfan Anaemia: A New Diagnostic Strategy
- Source :
- PLoS ONE, Vol 10, Iss 9, p e0138200 (2015), PLoS ONE
- Publication Year :
- 2015
- Publisher :
- Public Library of Science (PLoS), 2015.
-
Abstract
- Diamond-Blackfan Anaemia (DBA) is a rare inherited anaemia caused by heterozygous mutations in one of 13 ribosomal protein genes. Erythroid progenitors (BFU-E and CFU-E) in bone marrow (BM) show a proapoptotic phenotype. Suspicion of DBA is reached after exclusion of other forms of BM failure syndromes. To improve DBA diagnosis, which is confirmed by mutation analysis, we tested a new approach based on the study of extracellular vesicles (EVs) isolated from plasma by differential centrifugations and analysed by flow cytometry. We chose CD34, CD71 and CD235a markers to study erythroid EVs. We characterised the EVs immunophentoypic profiles of 13 DBA patients, 22 healthy controls and 16 patients with other haematological diseases. Among the three EVs clusters we found, only the CD34+/CD71low population showed statistically significant differences between DBA patients and controls (p< 0.05). The absence of this cluster is in agreement with the low levels of BFU-E found in DBA patients. The assessment of ROC curves demonstrated the potential diagnostic value of this population. We suggest that this assay may be useful to improve DBA diagnosis as a quicker and less invasive alternative to BM BFU-E culture analysis.
- Subjects :
- Adult
Male
medicine.medical_specialty
Adolescent
Science
Population
CD34
Antigens, CD34
Biology
Immunophenotyping
Colony-Forming Units Assay
Extracellular Vesicles
Young Adult
Antigens, CD
Internal medicine
hemic and lymphatic diseases
Receptors, Transferrin
medicine
Humans
Diamond Blackfan anemia
Glycophorins
Diamond–Blackfan anemia
Aplastic anemia
Child
education
Erythroid Precursor Cells
Anemia, Diamond-Blackfan
education.field_of_study
Multidisciplinary
Hematology
Infant
Middle Aged
Flow Cytometry
medicine.disease
Molecular biology
medicine.anatomical_structure
ROC Curve
Child, Preschool
Immunology
Medicine
Female
Bone marrow
Biomarkers
Research Article
Subjects
Details
- Language :
- English
- ISSN :
- 19326203
- Volume :
- 10
- Issue :
- 9
- Database :
- OpenAIRE
- Journal :
- PLoS ONE
- Accession number :
- edsair.doi.dedup.....8a9470a7d26a56a0a57c05274b4fbd8f