Aplastic anemia

Definition:

Aplastic anemia (AA) is a rare disease in which the reduction of the circulating blood cells results from damage to the stem cell pool in bone marrow. Most cases of acquired aplastic anemia are the consequence of an immune-mediated destruction of hematopoiesis. Autoreactive cytotoxic T cells play a key role in the pathogenesis of AA by myelosuppressive cytokines including interferon-gamma. It has been reported that polymorphisms in IFNG are related to AA. A minority of patients with AA has heterozygous mutations in genes encoding the telomerase components TERT or TERC. Immunosuppressive therapy (IST) is one of the main treatment modalities for AA, although most patients with telomerase mutations do not respond adequately to IST.

References:

[1]. Elena E Solomou, et al. Perforin gene mutations in patients with acquired aplastic anemia. Blood. 2007 Jun 15;109(12):5234-7. [Content Brief]

[2]. Hiroyuki Shimada, et al. First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability. Hum Genet. 2004 Oct;115(5):372-6. [Content Brief]

[3]. Rodrigo T Calado, et al. Mutations in the SBDS gene in acquired aplastic anemia. Blood. 2007 Aug 15;110(4):1141-6. [Content Brief]

[4]. Rodrigo T Calado, et al. Telomeres and marrow failure. Hematology Am Soc Hematol Educ Program. 2009;338-43. [Content Brief]

[5]. Yun-Gyoo Lee, et al. Impact of cytokine gene polymorphisms on risk and treatment outcomes of aplastic anemia. Ann Hematol. 2011 May;90(5):515-21. [Content Brief]

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