Paiva Raquel M A, Calado Rodrigo T
Department of Internal Medicine, University of São Paulo at Ribeirão Preto School of Medicine, Ribeirão Preto, São Paulo, Brazil.
Prog Mol Biol Transl Sci. 2014;125:133-57. doi: 10.1016/B978-0-12-397898-1.00006-2.
Aplastic anemia is a disease in which the hematopoietic stem cell fails to adequately produce peripheral blood cells, causing pancytopenia. In some cases of acquired aplastic anemia and in inherited type of aplastic anemia, dyskeratosis congenita, telomere biology gene mutations and telomere shortening are etiologic. Telomere erosion hampers the ability of hematopoietic stem and progenitor cells to adequately replicate, clinically resulting in bone marrow failure. Additionally, telomerase mutations and short telomeres are genetic risk factors for the development of some hematologic cancers, including myelodysplastic syndrome, acute myeloid leukemia, and chronic lymphocytic leukemia.
再生障碍性贫血是一种造血干细胞无法充分产生外周血细胞而导致全血细胞减少的疾病。在某些获得性再生障碍性贫血病例以及遗传性再生障碍性贫血、先天性角化不良、端粒生物学基因突变和端粒缩短的情况下，它们是病因。端粒侵蚀会妨碍造血干细胞和祖细胞充分复制的能力，临床上会导致骨髓衰竭。此外，端粒酶突变和短端粒是包括骨髓增生异常综合征、急性髓系白血病和慢性淋巴细胞白血病在内的一些血液系统癌症发生发展的遗传风险因素。
