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Congenital Dyserythropoietic Anemia Type II due to Compound Heterozygous SEC23B Mutations Mimicking Thalassemia: A Case of Severe Preventable Morbidity in a Resource-Limited Setting.

Year: 2025

Type: preprint

Abstract: 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

DOI: 10.22541/au.176035684.45653194/v1

Authors: Laiba Hashmi, Fazeela Bibi, Khalil ELABDI, Rakhee Lohana, Surakcha Rani, Fatima Arif, Kristen Batten, Muskaan Ahmad Khan, Zain ul Abiden, Said Hamid Sadat

Institutions: Foundation University Medical College, Jinnah Medical & Dental College, Mohammed V University, Dow University of Health Sciences, Allama Iqbal Medical College, Riphah International University, Kabul University of Medical Sciences Abu Ali Ibn Sina

Language: English

Topic: Hemoglobinopathies and Related Disorders

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

OpenAlex ID: W4415104652

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