Investigation of telomeres in Egyptian patients with bone marrow failure

Abstract

Background and aim for the work: Bone marrow failure (BMF) is the inability of the bone marrow to produce an adequate number of peripheral blood cells. BMF included inherited and acquired conditions. The telomerase complex maintains telomere length (TL) in embryonic cells and in few adult cell types such as germ cells, stem cells, T lymphocytes, and monocytes. All the other adult cells, including blood cells, show a progressive reduction in telomere length, which correlates with the age and rate of cell proliferation. Our study aims to evaluate the utility of Real-Time Quantitative-Polymerase Chain Reaction (RQ-PCR) in measuring the relative telomere length and to investigate its correlation with the clinicopathological data of the Egyptian BMF patients. Materials and methods: The study included 3 groups: a group of inherited BMF (25 patients), a group of acquired BMF (10 patients) and a third healthy control group (15 cases). The relative telomere length (RTL) is evaluated for them using RQ-PCR. Results: We have found a significant difference in RTL between all BMF patients and healthy controls (P value= 0.001), there was a significant difference in RTL between inherited BMF patients and its age-matched controls (P value=0.009), also a significant difference between acquired BMF patients and its age-matched controls (P value= 0.034). However, there was no significant difference between inherited and acquired BMF patients (P value= 0.479). On the other hand, we find an association between RTL and lymphocyte count (P value= 0.032) in inherited BMF patients. While another association observed with RTL and red blood cell count (RBCs) in acquired BMF patients (P value= 0.048). There was no significant correlation with RTL and the overall survival or prognosis of those patients. Conclusion: We conclude that the telomere lengths are significantly altered in Egyptian BMF patients, either whether inherited or acquired compared to the control group, with some hematological changes.