{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T07:03:44Z","timestamp":1774595024282,"version":"3.50.1"},"reference-count":22,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,11,15]],"date-time":"2022-11-15T00:00:00Z","timestamp":1668470400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100012542","name":"Sichuan Province Science and Technology Support Program","doi-asserted-by":"publisher","award":["2022YFS0243"],"award-info":[{"award-number":["2022YFS0243"]}],"id":[{"id":"10.13039\/100012542","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>X-linked sideroblastic anaemia (XLSA) is an inherited disorder caused by mutations in genes encoding proteins involved in the biosynthesis of haem. The pathogenic gene, as well as the pathogenesis and diagnosis of XLSA, have been fully elucidated in previous studies. However, only a few new advances have been made in managing XLSA in recent years, and blood transfusion remains the primary treatment. We report a case of umbilical cord blood haematopoietic stem cell transplantation in a male infant diagnosed with XLSA who was born with asphyxia due to severe anaemia. Early hepatic vein occlusion occurred after transplantation. However, this complication was rapidly controlled after active treatment, and the child\u2019s quality of life improved significantly. Haematopoietic stem cell transplantation is a promising alternative treatment for XLSA.<\/jats:p>","DOI":"10.3389\/fgene.2022.1009988","type":"journal-article","created":{"date-parts":[[2022,11,15]],"date-time":"2022-11-15T06:44:37Z","timestamp":1668494677000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Case report: An infant boy with X-linked sideroblastic anaemia successfully treated by umbilical cord blood haematopoietic stem cell transplantation"],"prefix":"10.3389","volume":"13","author":[{"given":"Zhongyang","family":"Ma","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongjun","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xue","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan","family":"Liang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yiping","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,11,15]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"3166","DOI":"10.1038\/sj.emboj.7600792","article-title":"Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans","volume":"24","author":"Astner","year":"2005","journal-title":"EMBO J."},{"key":"B2","doi-asserted-by":"publisher","first-page":"938","DOI":"10.1046\/j.1365-2141.2001.02855.x","article-title":"Congenital sideroblastic anaemia successfully treated using allogeneic stem cell transplantation","volume":"113","author":"Ayas","year":"2001","journal-title":"Br. 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