{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T19:27:02Z","timestamp":1792006022842,"version":"4.4.0"},"reference-count":31,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,8,13]],"date-time":"2020-08-13T00:00:00Z","timestamp":1597276800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital sideroblastic anemia (CSA) constitutes an uncommon category of inherited anemia often associated with pathologic iron accumulation. Pathogenic variants in several genes have been identified as causative for CSA. Autosomal recessive pathogenic variants in the mitochondrial glycine transporter <jats:italic>SLC25A38<\/jats:italic> have been implicated in a subset of patients with CSA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Procedure<\/jats:title><jats:p>We describe seven individuals of Canadian Cree descent with a known or inferred homozygous novel founder missense variant in <jats:italic>SLC25A38<\/jats:italic> (c.560G&gt;A, p.Arg187Gln).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All individuals presented as young children (median age 6\u00a0months) with severe microcytic, hypochromic anemia associated with pretransfusion iron overload, requiring red cell transfusion support and iron chelation. Six individuals received pyridoxine supplementation; two demonstrating transient partial responses. Three individuals underwent allogeneic hematopoietic stem cell transplantation (HSCT). One individual with significant iron loading died in the posttransplant period due to complications of sepsis. The other two individuals remain transfusion\u2010free following HSCT.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Despite a common genetic etiology, phenotypic variability was noted in this cohort. A transient response to pyridoxine was noted in two individuals but should not be considered a long\u2010term therapeutic strategy. HSCT was curative when performed before significant iron loading occurred. Early identification of CSA and timely HSCT can result in excellent long\u2010term outcomes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.28623","type":"journal-article","created":{"date-parts":[[2020,8,13]],"date-time":"2020-08-13T13:49:36Z","timestamp":1597326576000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in <i>SLC25A38<\/i>"],"prefix":"10.1002","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6357-6010","authenticated-orcid":false,"given":"Kelsey","family":"Uminski","sequence":"first","affiliation":[{"name":"Department of Internal Medicine University of Manitoba  Winnipeg Manitoba Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald S.","family":"Houston","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Section of Hematology and Medical Oncology University of Manitoba  Winnipeg Manitoba Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica N.","family":"Hartley","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Medical Genetics University of Manitoba  Winnipeg Manitoba Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Medical Genetics University of Manitoba  Winnipeg Manitoba Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geoffrey D.E.","family":"Cuvelier","sequence":"additional","affiliation":[{"name":"Departments of Pediatric Hematology\u2010Oncology, Cancer Care Manitoba, and Pediatrics and Child Health University of Manitoba  Winnipeg Manitoba Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6071-0042","authenticated-orcid":false,"given":"Sara J.","family":"Israels","sequence":"additional","affiliation":[{"name":"Departments of Pediatric Hematology\u2010Oncology, Cancer Care Manitoba, and Pediatrics and Child Health University of Manitoba  Winnipeg Manitoba Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,8,13]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2018.05.074"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/asheducation-2011.1.525"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.22244"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hoc.2014.04.008"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1080\/21548331.1991.11704291"},{"issue":"4","key":"e_1_2_10_7_1","first-page":"373","article-title":"Congenital sideroblastic anemia successfully treated by allogeneic bone marrow transplantation","volume":"10","author":"Urban C","year":"1992","journal-title":"Bone Marrow Transplant"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2000.02050.x"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.12217"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2018-08-815951"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.359"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M116.736876"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2010.039164"},{"key":"e_1_2_10_14_1","unstructured":"KniffinCL. 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