Congenital dyserythropoietic anemia type II—A rare case report
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Date
2025-06
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Publisher
Wolters Kluwer - Medknow
Abstract
Congenital dyserythropoietic anemia type II (CDA II), initially described as hereditary erythroblastic multinuclearity with a positive acidified serum test (HEMPAS), is a rare genetic disease inherited in an autosomal recessive mode that presents with mild to severe anemia. The occurrence of this entity is quite uncommon and requires extensive work-up for a conclusive diagnosis. Here, we are reporting a case of two-year-old male child who presented with severe anemia, abdominal distension, and delayed milestones. Evaluation of bone marrow aspirate suggested the possibility of CDA which led to molecular work-up by whole exome sequencing with detection of c.1142C>T (p.Thr381lle) variant in SEC23B (NM_006363.6) gene.
Description
Keywords
CDA II, congenital dyserythropoietic anemia, erythroblastic multinuclearity, HEMPAS, SEC23B gene, whole exome sequencing
Citation
Sharma Tejasvi, Vaswani Shruti, Barman Debasish, Didel Siyaram, Purohit Abhishek. Congenital dyserythropoietic anemia type II—A rare case report. Indian Journal of Pathology & Microbiology. 2025 Jun; 68(2): 435-437