P691: Genetic testing for inherited red blood cell disorders: Diagnostic yield and clinical utility
Inherited Red Blood Cell Disorders (IRBCD) in children and young adults are a heterogenous group of disorders caused by underlying genetic defects affecting various cellular aspects of red blood cell structure and function. These defects commonly involve enzymatic pathways, cell membrane structure and elasticity, and ribosomal proteins. Clinical symptoms include anemia, reticulocytopenia or reticulocytosis, jaundice and splenomegaly, and are often accompanied by other features such as congenital anomalies.
Authors
- Naomi Gunawardena
- Jeffrey Schubert (ORCID: https://orcid.org/0000-0002-2927-0229)
- T.D.W. Luke (ORCID: https://orcid.org/0000-0001-5070-2332)
- Kaoru Takasaki (ORCID: https://orcid.org/0000-0002-2081-9692)
- Elizabeth A. Fanning
- Alex Gileta
- Lea F. Surrey (ORCID: https://orcid.org/0000-0002-6944-2232)
- Minjie Luo (ORCID: https://orcid.org/0000-0002-5788-3962)
- Elizabeth H. Denenberg
- Alicia Moseley
- Marilyn M. Li (ORCID: https://orcid.org/0000-0002-4253-2369)
- Stella T. Chou (ORCID: https://orcid.org/0000-0003-4333-6965)
- Julia Mewha
- Jinhua Wu (ORCID: https://orcid.org/0000-0002-8511-3949)
- Jiani Chen (ORCID: https://orcid.org/0000-0002-3560-2269)
- Yiming Zhong (ORCID: https://orcid.org/0000-0002-6596-6952)
- Sarah Charles
- Jacob Squicciarini
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103060
- Primary Topic
- Erythrocyte Function and Pathophysiology
- Type
- article
- Field-Weighted Citation Impact
- 0.00