19 May 2026
: Case report 
Neonatal-Onset Refractory Thrombocytopenia and Anemia Associated With a Homozygous In-Frame NFE2 Duplication
Challenging differential diagnosis, Rare disease, Congenital defects / diseases, Rare coexistence of disease or pathology
Mohammed Shahab Uddin
ABCDEF 1,2,3*, Maan Albehair BFG 4,2,3, Fayez Nashi Motlaq Alshammari BFG 4,2,3, Amr Esmail BFG 4,2,3, Khaled Shafeen BFG 5, Abdullah Bin Hassan BEG 4,2,3, Hana Bawazier ACE 4,2,3
DOI: 10.12659/AJCR.952024
Am J Case Rep 2026; 27:e952024
Figure 1 Longitudinal hemoglobin (red), WBC (blue), and platelet (green) counts with PRBC (black vertical lines) and platelet transfusions (orange lines), from January 2022 through January 2025, demonstrating persistent thrombocytopenia with transient transfusion responses and lack of romiplostim effect.