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Pediatr Int. 2013 Dec;55(6):675-9. doi: 10.1111/ped.12217.

Pathophysiology and genetic mutations in congenital sideroblastic anemia.

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  • 1Department of Hematology and Rheumatology, Tohoku University Graduate School of Medicine, Sendai, Japan; Molecular Hematology/Oncology, Tohoku University Graduate School of Medicine, Sendai, Japan.


Sideroblastic anemias are heterogeneous congenital and acquired disorders characterized by anemia and the presence of ringed sideroblasts in the bone marrow. Congenital sideroblastic anemia (CSA) is a rare disease caused by mutations of genes involved in heme biosynthesis, iron-sulfur [Fe-S] cluster biosynthesis, and mitochondrial protein synthesis. The most common form is X-linked sideroblastic anemia, due to mutations in the erythroid-specific δ-aminolevulinate synthase (ALAS2), which is the first enzyme of the heme biosynthesis pathway in erythroid cells. Other known etiologies include mutations in the erythroid specific mitochondrial transporter (SLC25A38), adenosine triphosphate (ATP) binding cassette B7 (ABCB7), glutaredoxin 5 (GLRX5), thiamine transporter SLC19A2, the RNA-modifying enzyme pseudouridine synthase (PUS1), and mitochondrial tyrosyl-tRNA synthase (YARS2), as well as mitochondrial DNA deletions. Due to its rarity, however, there have been few systematic pathophysiological and genetic investigations focusing on sideroblastic anemia. Therefore, a nationwide survey of sideroblastic anemia was conducted in Japan to investigate the epidemiology and pathogenesis of this disease. This review will cover the findings of this recent survey and summarize the current understanding of the pathophysiology and genetic mutations involved in CSA.

© 2013 The Authors. Pediatrics International © 2013 Japan Pediatric Society.


ALAS2; congenital sideroblastic anemia; heme; iron; mitochondria

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