Congenital dyserythropoietic anemia type II—A rare case report

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dc.contributor.authorSharma, Tejasvien_US
dc.contributor.authorVaswani, Shrutien_US
dc.contributor.authorBarman, Debasishen_US
dc.contributor.authorDidel, Siyaramen_US
dc.contributor.authorPurohit, Abhisheken_US
dc.date.accessioned2025-08-13T11:40:48Z
dc.date.available2025-08-13T11:40:48Z
dc.date.issued2025-06
dc.description.abstractCongenital 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.en_US
dc.identifier.affiliationsDepartment of Pathology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, Indiaen_US
dc.identifier.affiliationsDepartment of Pathology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, Indiaen_US
dc.identifier.affiliationsDepartment of Paediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, Indiaen_US
dc.identifier.affiliationsDepartment of Paediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, Indiaen_US
dc.identifier.affiliationsDepartment of Pathology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, Indiaen_US
dc.identifier.citationSharma 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): 435-437en_US
dc.identifier.issn0377-4929
dc.identifier.issn0974-5130
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/253962
dc.languageenen_US
dc.publisherWolters Kluwer - Medknowen_US
dc.relation.issuenumber2en_US
dc.relation.volume68en_US
dc.source.urihttps://doi.org/10.4103/ijpm.ijpm_961_23en_US
dc.subjectCDA IIen_US
dc.subjectcongenital dyserythropoietic anemiaen_US
dc.subjecterythroblastic multinuclearityen_US
dc.subjectHEMPASen_US
dc.subjectSEC23B geneen_US
dc.subjectwhole exome sequencingen_US
dc.titleCongenital dyserythropoietic anemia type II—A rare case reporten_US
dc.typeJournal Articleen_US
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