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The diagnosis is difficult to make and usually delayed in part due to its rarity and nonspecific clinical manifestations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole exome sequencing was applied for the genetic diagnosis of a 12\u2010year\u2010old boy who has suffered from hemolytic anemia since birth and who requires regular transfusions. Sanger sequencing of the variants detected in whole exome sequencing was performed in the patient and his parents.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Compound heterozygous mutations of <jats:italic>CDAN1<\/jats:italic> gene, including one previously reported and one novel mutation, which is a splicing change, were detected in the whole exome sequencing and confirmed by Sanger sequencing. The autosomal recessive inheritance was confirmed by pedigree analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>To our knowledge, this is the first case report of congenital dyserythropoiesis anemia type Ia with genetic diagnosis to be located in Taiwan. Because of the rarity of CDA Ia and the overlapping of the clinical manifestations with other hereditary anemias, the next\u2010generation sequencing approach is effective for conclusive diagnosis of CDA Ia.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1220","type":"journal-article","created":{"date-parts":[[2020,3,11]],"date-time":"2020-03-11T19:45:21Z","timestamp":1583955921000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Congenital dyserythropoiesis anemia type Ia with a novel <i>CDAN1<\/i> mutation diagnosed by whole exome sequencing"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3371-3010","authenticated-orcid":false,"given":"Pei\u2010Chin","family":"Lin","sequence":"first","affiliation":[{"name":"Division of Hematology and Oncology Department of Pediatrics Kaohsiung Medical University Hospital Kaohsiung Taiwan"},{"name":"Department of Pediatrics School of Medicine 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