Congenital Dyserythropoietic Anemia Type II due to Compound Heterozygous SEC23B Mutations Mimicking Thalassemia: A Case of Severe Preventable Morbidity in a Resource-Limited Setting.
IntroductionCongenital Dyserythropoietic Anemia Type II (CDA-II) is a rare autosomal recessive disorder characterized by ineffective erythropoiesis, typically caused by biallelic mutations in the SEC23B gene [1]. This gene encodes a crucial component
Authors
- Fazeela Bibi
- Marufa Aziz Khan (ORCID: https://orcid.org/0009-0002-0643-2771)
- Said Hamid Sadat (ORCID: https://orcid.org/0009-0006-7885-6214)
- Soumya Rani
- Fatima Arif
- Khalil ELABDI (ORCID: https://orcid.org/0009-0009-6138-6684)
- Kristen Batten
- Laiba Hashmi
- Rakhee Lohana (ORCID: https://orcid.org/0009-0004-4008-6344)
- Zain ul Abiden
Institutions
- Mohammed V University (MA)
- Hunan University of Traditional Chinese Medicine (CN)
- Kabul University (AF)
- Riphah International University (PK)
- Allama Iqbal Medical College (PK)
- Foundation University Medical College (PK)
- Jinnah Medical & Dental College (PK)
- Dow University of Health Sciences (PK)
Publication Details
- Published
- 2025-10-13
- DOI
- https://doi.org/10.22541/au.176035684.45653194/v1
- Primary Topic
- Erythrocyte Function and Pathophysiology
- Type
- article
- Field-Weighted Citation Impact
- 0.00