OBJECTIVETo measure telomere length of patients with bone marrow failure syndrome (BMFS) and explore the relationship between telomerase gene mutation and telomere shortening.

METHODSBlood samples from 10 patients with AA, MDS-RA were collected and performed TERC and TERT gene mutation analysis. Telomere length was measured by Southern blot and compared with normal controls and two patients with MDS-RAEB and AML each.

RESULTSTwo patients in the 10 BMFS patients had TERC and TERT gene mutations and very short telomeres compared with normal controls and with the 8 BMFS counterparts, the telomere length was less than 50% of that of normal control, and was similar to that of patients with MDS-RAEB and acute myelogenous leukemia, indicating the possibility of malignant transformation. Some BMFS patients with no mutations also had short telomeres.

CONCLUSIONSBMFS patients with telomerase gene mutation have very short telomeres, being similar to that of hematological malignancies. Some BMFS patients with no telomerase gene mutations also have short telomere length.