Abstract
BACKGROUND: Inherited bleeding disorders (IBDs) require accurate diagnosis and long-term management. This study characterized the clinical and hematologic profile of Egyptian children with IBDs managed at Cairo University Children's Hospital and Misr University for Science and Technology. METHODS: This retrospective longitudinal observational study included 200 pediatric patients with inherited coagulation or platelet disorders followed between 2015 and 2025. Data collected included demographics, family history, bleeding manifestations, complications, treatment exposure, functional scores, imaging findings, and confirmatory laboratory investigations. RESULTS: Hemophilia A (HA) and von Willebrand disease (vWD) were the most common disorders, accounting for 32.0% and 28.5% of cases, respectively. Among rare inherited coagulation defects, fibrinogen disorders and factor VII deficiency were the most frequent. HA showed the highest hospitalization rate, annual bleeding rate, and ISTH bleeding score, while joint disease was most prominent in hemophilia. Intracranial hemorrhage occurred most often in factor VII deficiency. In HA, the Functional Independence Score of Hemophilia (FISH) was the best discriminator of chronic hemophilic arthropathy (AUC 0.715; cutoff ≤ 26), followed by annual bleeding rate (AUC 0.695; cutoff > 6/year). Persistent high-titer inhibitors developed in 17.2% of HA patients. Most vWD cases were type 1 (75.4%), and Glanzmann thrombasthenia was the most common inherited platelet disorder. CONCLUSION: Egyptian children with IBDs show heterogeneous clinical presentations and outcomes. Severe phenotypes, particularly HA and type 3 vWD, were associated with earlier bleeding onset, greater morbidity, and the need for individualized management.