Congenital dyserythropoietic anemia type II-A rare case report.

ABSTRACT

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.