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Pediatr Blood Cancer. 2009 Sep;53(3):411-6. doi: 10.1002/pbc.22107.

Analysis of telomeres in peripheral blood cells from patients with bone marrow failure.

Author information

1
Department of Medical Sciences, University of Eastern Piedmont, Novara, Italy.

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).

PROCEDURE:

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.

Comment in

PMID:
19489057
DOI:
10.1002/pbc.22107
[Indexed for MEDLINE]

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