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Published on: September 9, 2012
Inherited coagulation disorders in Turkish children: A retrospective, single-center cohort study
Nergiz Öner1, Türkiz Gürsel2, Zühre Kaya2
1Pediatric Hematology Specialist, University of Health Sciences, Dr Sami Ulus Children's Hospital, Ankara, Turkey.
Insights
Von Willebrand disease is the most common inherited coagulation disorder in Turkish children, with delays in diagnosis. Prophylactic therapy significantly reduces bleeding complications and arthropathy in hemophilia.
Area of Science:
- Pediatrics
- Hematology
- Genetics
Background:
- Inherited coagulation disorders (ICD) represent a significant health concern in pediatric populations.
- Understanding the specific epidemiological and clinical profiles of ICD in diverse ethnic groups is crucial for targeted healthcare strategies.
Purpose of the Study:
- To determine the distribution, clinical features, and outcomes of inherited coagulation disorders in Turkish children.
- To analyze the prevalence of different types of ICD, including von Willebrand disease (vWd), hemophilia, and rare bleeding disorders (RBD).
Main Methods:
- Retrospective review of medical data from all children under 18 years diagnosed with ICD at a specific center.
- Data analysis included ICD type, demographic information, clinical manifestations, and treatment outcomes.
Main Results:
- Von Willebrand disease (40%) was the most frequent ICD, followed by hemophilia (34%) and RBD (26%).
- High rates of parental consanguinity were observed in type-3 vWd (72%) and severe RBD (61%), suggesting a genetic predisposition.
- Gastrointestinal bleeding (4.5%) and intracranial bleeding (4.96%) were significant complications, with a 30% mortality rate from intracranial bleeds.
Conclusions:
- Von Willebrand disease is the predominant ICD in Turkish children, with type-3 vWd and RBD influenced by consanguinity.
- Diagnosis of ICD in Turkish children is often delayed, highlighting a need for improved awareness and diagnostic pathways.
- Prophylactic replacement therapy is effective in preventing life-threatening bleeding and reducing chronic arthropathy in hemophilia patients.
Objective:
This study aims to investigate the distribution, clinical characteristics and outcome of inherited coagulation disorders (ICD) in Turkish children.
Subjects And Methods:
Data from all children (age<18 years) with ICD examined in our center were retrospectively reviewed.
Results:
There were 403 children with ICD (233 males and 170 females) with a median age of four years at diagnosis. The percentages of von Willebrand disease (vWd), hemophilia and rare bleeding disorders (RBD) were 40 %, 34 % and 26 %, type-1, type-2 and type-3 vWd were 63 % 17 % and 20 %, hemophilia A and B were 84 % and 16 %, and severe, moderate and mild hemophilia were 48 %, 30 % and 22 %, respectively. Factor VII and FXI deficiencies were the most prevalent, comprising 56 % and 22 % of all children with RBD, respectively. Parental consanguinity rates were 72 % in type-3 vWd and 61 % in severe RBD. The overall prevalence of gastrointestinal bleedings was 4.5 % (18/403), intracranial bleeding (ICB) was 4.96 % (20/403), mortality from ICB was 30 % (6/20) and the overall mortality rate was 1.49 % (6/403). No life-threatening bleeding was seen during regular prophylaxis. Chronic arthropathy prevalence in severe hemophilia was 8 % with primary prophylaxis and 53 % with demand therap. Inhibitor prevalence was 14 % in hemophilia-A and 5 % in hemophilia-B.
Conclusions:
These data show that vWd is the most common ICD, type-3 vWd and RBD are prevalent due to frequent consanguineous marriages and diagnosis of ICD is substantially delayed in Turkish children. Prophylactic replacement therapy prevents occurrence of life-threatening bleedings and reduces the development of hemophilic arthropathy.
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