Polycythemia and Systemic Manifestations in a 19-year-old Female with SLC30A10 Mutation

This report presents the case of a 19-year-old female with longstanding polycythemia identified in childhood and systemic symptoms, including fatigue, reduced appetite, and chronic joint pain. Neurological examination was unremarkable. Genetic testing revealed a homozygous pathogenic variant in the...

Full description

Bibliographic Details
Published in:Journal of Applied Hematology
Main Authors: Adel Fahad Almarzouki, Wedyan Matar Alqurashi, Atheer Mousa Alzahrani, Shaimaa Hamza Banaji
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2025-01-01
Subjects:
Online Access:https://journals.lww.com/10.4103/joah.joah_7_25