title: Analysis of telomeres in peripheral blood cells from patients with bone marrow failure.
abstract: BACKGROUND
  The determination of telomere length is useful for the characterization of dyskeratosis congenita (DC) and of aplastic anemias (AA) as well as hematological malignancies. Short telomeres result from a specific defect of telomere maintenance in DC and likely from higher cellular turnover in AA and hematological malignancies. Data are not conclusive for Diamond-Blackfan anemia (DBA), a pure erythroid aplasia due to defects of ribosomal proteins. Our aim was to evaluate the utility of a qPCR method for telomere length assessment to evaluate the diagnostic contribution of telomere measurement in bone marrow failure syndromes (BMFS).
  
  
  METHODS
  Telomere length was evaluated by qPCR in peripheral blood cells from 95 normal individuals and 62 patients with BMFS, including 45 patients with DBA.
  
  
  RESULTS
  Results obtained with qPCR are comparable with other quantitative methods, such as flow-FISH and Southern blotting. Our data show that only one DBA patient and a minority of other BMFS patients have very short telomeres, defined as less than the 1st percentile of controls.
  
  
  CONCLUSIONS
  The qPCR method for telomere length evaluation is an easy alternative to other methods and may thus be valuable in a clinical hematological laboratory setting. Telomere maintenance does not seem to be involved in the pathogenesis of DBA unlike in other BMFSs.
authors.affiliation: Department of Medical Sciences, University of Eastern Piedmont, Novara, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Pavesi
authors.forename: Federica
authors.initials: F
authors.lastname: Avondo
authors.forename: Anna
authors.initials: A
authors.lastname: Aspesi
authors.forename: Paola
authors.initials: P
authors.lastname: Quarello
authors.forename: Alberto
authors.initials: A
authors.lastname: Rocci
authors.forename: Chiara
authors.initials: C
authors.lastname: Vimercati
authors.forename: Simona
authors.initials: S
authors.lastname: Pigullo
authors.forename: Carlo
authors.initials: C
authors.lastname: Dufour
authors.forename: Ugo
authors.initials: U
authors.lastname: Ramenghi
authors.forename: Irma
authors.initials: I
authors.lastname: Dianzani
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000741:Anemia, Aplastic / Q000097:blood / Q000235:genetics*; D029503:Anemia, Diamond-Blackfan / Q000097:blood / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D019871:Dyskeratosis Congenita / Q000235:genetics*; D005199:Fanconi Anemia / Q000097:blood / Q000235:genetics*; D006801:Humans; D007223:Infant; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics; D016133:Polymerase Chain Reaction; D016615:Telomere
chemical_list: D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins