Sideroblastic anemia

Definition:

Sideroblastic anemias are a group of disorders characterized by anemia with the emergence of ring sideroblasts in the bone marrow. Inherited sideroblastic anemia is a rare and heterogeneous disease caused by mutations of genes involved in heme biosynthesis, iron-sulfur cluster biogenesis or transport, and mitochondrial metabolism.

References:

[1]. Andrew Crispin, et al. Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia. J Clin Invest. 2020 Oct 1;130(10):5245-5256. [Content Brief]

[2]. Clara Camaschella, et al. The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload. Blood. 2007 Aug 15;110(4):1353-8. [Content Brief]

[3]. Duane L Guernsey, et al. Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nat Genet. 2009 Jun;41(6):651-3. [Content Brief]

[4]. Hideo Harigae, et al. Hereditary sideroblastic anemia: pathophysiology and gene mutations. Int J Hematol. 2010 Oct;92(3):425-31. [Content Brief]

[5]. Klaus Schmitz-Abe, et al. Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. Blood. 2015 Dec 17;126(25):2734-8. [Content Brief]

[6]. P D Cotter, et al. Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency. Proc Natl Acad Sci U S A. 1992 May 1;89(9):4028-32. [Content Brief]

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