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Congenital dyserythropoietic anemia type II in a newborn with a novel compound heterozygous mutation in the SEC23B: a case report and review of the literature.
Zheng, Jiajia; Gao, Li; Liu, Hu; Xiao, Peifang; Lu, Jun; Li, Jie; Wu, Shuiyan; Cheng, Shengqin; Bian, Xinni; Du, Zhizhuo; Kong, Lingjun; Hu, Shaoyan; Fan, Junjie.
Afiliação
  • Zheng J; Department of Hematology and Oncology, Soochow University Affiliated Children's Hospital, Suzhou Industrial Park, No.92 Zhongnan Street, Suzhou, 215025, People's Republic of China.
  • Gao L; Department of Hematology and Oncology, Soochow University Affiliated Children's Hospital, Suzhou Industrial Park, No.92 Zhongnan Street, Suzhou, 215025, People's Republic of China.
  • Liu H; Department of Hematology and Oncology, Soochow University Affiliated Children's Hospital, Suzhou Industrial Park, No.92 Zhongnan Street, Suzhou, 215025, People's Republic of China.
  • Xiao P; Department of Hematology and Oncology, Soochow University Affiliated Children's Hospital, Suzhou Industrial Park, No.92 Zhongnan Street, Suzhou, 215025, People's Republic of China.
  • Lu J; Department of Hematology and Oncology, Soochow University Affiliated Children's Hospital, Suzhou Industrial Park, No.92 Zhongnan Street, Suzhou, 215025, People's Republic of China.
  • Li J; Department of Hematology and Oncology, Soochow University Affiliated Children's Hospital, Suzhou Industrial Park, No.92 Zhongnan Street, Suzhou, 215025, People's Republic of China.
  • Wu S; Department of Hematology and Oncology, Soochow University Affiliated Children's Hospital, Suzhou Industrial Park, No.92 Zhongnan Street, Suzhou, 215025, People's Republic of China.
  • Cheng S; Department of Hematology and Oncology, Soochow University Affiliated Children's Hospital, Suzhou Industrial Park, No.92 Zhongnan Street, Suzhou, 215025, People's Republic of China.
  • Bian X; Department of Hematology and Oncology, Soochow University Affiliated Children's Hospital, Suzhou Industrial Park, No.92 Zhongnan Street, Suzhou, 215025, People's Republic of China.
  • Du Z; Department of Hematology and Oncology, Soochow University Affiliated Children's Hospital, Suzhou Industrial Park, No.92 Zhongnan Street, Suzhou, 215025, People's Republic of China.
  • Kong L; Department of Hematology and Oncology, Soochow University Affiliated Children's Hospital, Suzhou Industrial Park, No.92 Zhongnan Street, Suzhou, 215025, People's Republic of China.
  • Hu S; Department of Hematology and Oncology, Soochow University Affiliated Children's Hospital, Suzhou Industrial Park, No.92 Zhongnan Street, Suzhou, 215025, People's Republic of China. hsy139@126.com.
  • Fan J; Department of Hematology and Oncology, Soochow University Affiliated Children's Hospital, Suzhou Industrial Park, No.92 Zhongnan Street, Suzhou, 215025, People's Republic of China. jjiefan@126.com.
Int J Hematol ; 119(2): 210-214, 2024 Feb.
Article em En | MEDLINE | ID: mdl-38127226
ABSTRACT
Congenital dyserythropoietic anemia type II (CDA II) refers to a group of extremely rare heterozygous disorders characterized by ineffective erythropoiesis and morphological abnormalities of erythrocytes and bone marrow erythroblasts. Six types of CDA with differing heterogenous genetic mutations have been identified to date. Due to the genetic and clinical heterogeneity of CDA, accurate diagnosis can be very challenging, especially with the clinical overlap observed between CDA and other dyserythropoietic diseases. A 1-month-old infant girl, born to a non-consanguineous family, presented with severe normocytic anemia that required transfusions every 2 to 3 weeks since birth, as well as jaundice. Whole exome sequencing revealed a novel compound heterozygosity in the SEC23B gene, thus establishing the diagnosis of CDA II. Analysis by multiple bioinformatics tools predicted that the mutant proteins were deleterious. Here, we report a novel variation in SEC23B that extends the mutation spectrum of SEC23B in the diagnosis of CDA II.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anemia Diseritropoética Congênita Limite: Female / Humans / Infant / Newborn Idioma: En Revista: Int J Hematol Assunto da revista: HEMATOLOGIA Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anemia Diseritropoética Congênita Limite: Female / Humans / Infant / Newborn Idioma: En Revista: Int J Hematol Assunto da revista: HEMATOLOGIA Ano de publicação: 2024 Tipo de documento: Article