{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:19:15Z","timestamp":1790515155101,"version":"4.1.0"},"reference-count":36,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,12,11]],"date-time":"2013-12-11T00:00:00Z","timestamp":1386720000000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sideroblastic anemias are heterogeneous congenital and acquired disorders characterized by anemia and the presence of ringed sideroblasts in the bone marrow. Congenital sideroblastic anemia (<jats:styled-content style=\"fixed-case\">CSA<\/jats:styled-content>) is a rare disease caused by mutations of genes involved in heme biosynthesis, iron\u2013sulfur [Fe\u2010S] cluster biosynthesis, and mitochondrial protein synthesis. The most common form is <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010linked sideroblastic anemia, due to mutations in the erythroid\u2010specific \u03b4\u2010aminolevulinate synthase (<jats:italic><jats:styled-content style=\"fixed-case\">ALAS2<\/jats:styled-content><\/jats:italic>), which is the first enzyme of the heme biosynthesis pathway in erythroid cells. Other known etiologies include mutations in the erythroid specific mitochondrial transporter (<jats:italic><jats:styled-content style=\"fixed-case\">SLC25A38<\/jats:styled-content><\/jats:italic>), adenosine triphosphate (<jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>) binding cassette B7 (<jats:italic><jats:styled-content style=\"fixed-case\">ABCB7<\/jats:styled-content><\/jats:italic>), glutaredoxin 5 (<jats:italic><jats:styled-content style=\"fixed-case\">GLRX5<\/jats:styled-content><\/jats:italic>), thiamine transporter <jats:italic><jats:styled-content style=\"fixed-case\">SLC19A2<\/jats:styled-content><\/jats:italic>, the <jats:styled-content style=\"fixed-case\">RNA<\/jats:styled-content>\u2010modifying enzyme pseudouridine synthase (<jats:italic><jats:styled-content style=\"fixed-case\">PUS1<\/jats:styled-content><\/jats:italic>), and mitochondrial tyrosyl\u2010<jats:styled-content style=\"fixed-case\">tRNA<\/jats:styled-content> synthase (<jats:italic><jats:styled-content style=\"fixed-case\">YARS2<\/jats:styled-content><\/jats:italic>), as well as mitochondrial <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> 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 <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>apan 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 <jats:styled-content style=\"fixed-case\">CSA<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/ped.12217","type":"journal-article","created":{"date-parts":[[2013,9,4]],"date-time":"2013-09-04T14:01:51Z","timestamp":1378303311000},"page":"675-679","source":"Crossref","is-referenced-by-count":52,"title":["Pathophysiology and genetic mutations in congenital sideroblastic anemia"],"prefix":"10.1111","volume":"55","author":[{"given":"Tohru","family":"Fujiwara","sequence":"first","affiliation":[{"name":"Department of Hematology and Rheumatology Tohoku University Graduate School of Medicine  Sendai Japan"},{"name":"Molecular Hematology\/Oncology Tohoku University Graduate School of Medicine  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideo","family":"Harigae","sequence":"additional","affiliation":[{"name":"Department of Hematology and Rheumatology Tohoku University Graduate School of Medicine  Sendai Japan"},{"name":"Molecular Hematology\/Oncology Tohoku University Graduate School of Medicine  Sendai Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,12,11]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"865","volume-title":"Williams Hematology","author":"Ponka P","year":"2010"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12185-010-0688-4"},{"key":"e_1_2_5_4_1","first-page":"118","article-title":"Copper deficiency in humans","volume":"20","author":"Williams DM","year":"1983","journal-title":"Semin. 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