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Characterization of Inherited Bleeding Disorders in Egyptian Children in a Tertiary Care Center: A 10 Years
Mona El-Ghamrawy1, Marwa Abdelhady1, Salma Mohamed Fathy Zahran2
1Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
Insights
Egyptian children with inherited bleeding disorders (IBDs) present diverse clinical features. Severe phenotypes like Hemophilia A (HA) and von Willebrand disease (vWD) require tailored management for better outcomes.
Area of Science:
- Pediatric Hematology
- Genetic Disorders
- Clinical Medicine
Background:
- Inherited bleeding disorders (IBDs) necessitate precise diagnosis and ongoing care.
- This study focuses on Egyptian pediatric patients with IBDs.
Purpose of the Study:
- To characterize the clinical and hematologic profiles of Egyptian children with IBDs.
- To identify common and rare IBDs and their associated manifestations in this population.
Main Methods:
- Retrospective longitudinal observational study of 200 pediatric patients.
- Data collection spanned demographics, bleeding history, complications, treatments, and laboratory findings from 2015-2025.
Main Results:
- Hemophilia A (32.0%) and von Willebrand disease (28.5%) were most prevalent.
- Factor VII deficiency and fibrinogen disorders were common rare defects. HA correlated with higher bleeding rates and joint disease; intracranial hemorrhage was frequent in factor VII deficiency.
- High-titer inhibitors occurred in 17.2% of HA patients. Glanzmann thrombasthenia was the most common platelet disorder.
Conclusions:
- Egyptian children exhibit varied IBD presentations and outcomes.
- Severe phenotypes, including Hemophilia A and type 3 von Willebrand disease, demand individualized management strategies due to increased morbidity.
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.
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