hTERT gene expression in children with β-thalassemia major

Abstract:

OBJECTIVE: Human telomerase reverse transcriptase (hTERT) is a rate-limiting enzyme which dictates the activity of human telomerase and thus decides the life span of cells. The aim of this study was to explore the expression of hTERT in bone marrow from children with β-thalassemia major and the relationship between the expression of hTERT and hemoglobin levels. METHODS: Multiple allele specific polymerase chain reaction (MASPCR) was used for targeted DNA amplification and gene mutation analysis of β-thalassemia. hTERT mRNA expression in bone marrow was examined using real-time reverse transcription polymerase chain reaction (RT-PCR) analysis in 29 children with β-thalassemia major, in 10 children with agranulocytosis and in K562 cell line. The hemoglobin levels in peripheral blood were measured. The relationship between hTERT expression and hemoglobin levels was evaluated by the Spearman test in the β-thalassemia major group. RESULTS: hTERT mRNA expression significantly increased in bone marrow from children with β-thalassemia major compared with that from children with agranulocytosis (0.2928±0.0838 vs 0.0993±0.0336; P<0.01), but was significantly lower than that in K562 cell line (0.8291±0.0908) (P<0.01). A significantly inverse correlation was found between hTERT mRNA expression and hemoglobin levels (r=-0.841, P<0.01). CONCLUSIONS: A low hemoglobin concentration might contribute to the up-regulation of marrow hTERT expression in children with β-thalassemia major.［Chin J Contemp Pediatr, 2009, 11 (6):449-452］