Rare Inherited Coagulation Deficiencies: A Single-center Study

Area of Science:

• Hematology
• Genetics
• Pediatrics

Background:

• Rare factor deficiencies (RFD) encompass a spectrum of inherited bleeding disorders affecting coagulation factors.
• These conditions, with a prevalence of 1 in 1,000,000 to 3,000,000, can manifest with mild to severe bleeding symptoms.
• Combined deficiencies, particularly of vitamin K-dependent factors, present a significant clinical challenge.

Purpose of the Study:

• To contribute to the existing literature on rare factor deficiencies.
• To analyze the characteristics and outcomes of children diagnosed with RFD.

Main Methods:

• A retrospective analysis of data from 43 pediatric patients diagnosed with rare factor deficiencies.
• Review of medical records to identify factor types, clinical presentations, and management strategies.

Main Results:

• Factor VII deficiency was the most frequent (n=13), followed by Factor XII (n=9) and Factor X (n=6).
• 16 out of 43 cases involved consanguineous marriages, suggesting a higher prevalence in such populations.
• Effective management strategies included treatment for acute bleeding and prophylaxis for recurrent symptoms.

Conclusions:

• Autosomal recessive inheritance necessitates improved genetic counseling and diagnostic access for families.
• Timely diagnosis and adequate preventive measures are crucial to mitigate the risk of severe, life-threatening hemorrhages.
• Understanding the genetic and environmental factors, such as consanguinity, is vital for comprehensive RFD management.