Double Heterozygous Mutation with a Likely Pathogenic Variant and a VUS in SEC23B Gene: A Diagnostic Challenge for Congenital Dyserythropoietic Anemia in a Child – A Case Report

Double Heterozygous Mutation with a Likely Pathogenic Variant and a VUS in SEC23B Gene: A Diagnostic Challenge for Congenital Dyserythropoietic Anemia in a Child – A Case Report

Background: Congenital dyserythropoietic anemia (CDA) is a rare cause of inherited transfusion-dependent anemia. Here, we describe the diagnostic complexity, which was enhanced due to a superimposed parvovirus infection, compounded further by difficulty in interpreting genetic sequencing results. Cl...

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Bibliographic Details
Main Authors: Shashank Tiwari, Rajendra Singh Mahiya, Tanya Jain, Kanwaljeet Kaur Chopra
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2025-04-01
Series:Indian Pediatrics Case Reports
Subjects:
hemolytic anemia
ineffective erythropoiesis
parvovirus
transfusion dependency
Online Access:https://journals.lww.com/10.4103/ipcares.ipcares_211_24
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