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Clinical Profile of Congenital Factor XIII Deficiency in Children
Naveen Kanth Nadakuditi1, Elvis Fabian Peters1, Sitalakshmi Subramanian2
1Department of Pediatric Hematology- Oncology & Bone Marrow Transplantation, St. John's Medical College & Hospital, Bangalore, Karnataka, India.
Insights
Congenital Factor 13 Deficiency (FXIIID) is a rare bleeding disorder. Early diagnosis and regular cryoprecipitate prophylaxis are crucial to prevent severe bleeding events like intracranial bleeds in affected children.
Area of Science:
- Hematology
- Pediatric Medicine
- Rare Diseases
Background:
- Congenital Factor 13 Deficiency (FXIIID) is a rare autosomal recessive bleeding disorder with low incidence.
- FXIIID presents with diverse clinical symptoms, necessitating a comprehensive understanding for effective management.
Purpose of the Study:
- To describe the clinical symptomatology, diagnostic methods, and management strategies for Congenital Factor 13 Deficiency in children.
- To highlight the diagnostic delays and the impact of prophylaxis in a cohort of Indian children.
Main Methods:
- Retrospective chart review of pediatric patients with FXIIID from January 2000 to October 2021.
- Diagnosis confirmed using Urea Clot Solubility Test (UCST) and Factor XIII antigen assay.
Main Results:
- Twenty children from 16 families were analyzed, with a male to female ratio of 1.5:1.
- A significant delay in diagnosis was observed (median onset 6 months, median diagnosis 1 year).
- High consanguinity rate (75%) noted; common symptoms included mucosal and intracranial bleeds, with a history of prolonged neonatal umbilical bleeding.
Conclusions:
- FXIIID exhibits varied bleeding patterns, with a notable risk of intracranial hemorrhage, often as the first presentation.
- High prevalence in Southern India linked to consanguinity; regular cryoprecipitate prophylaxis is essential and feasible for preventing severe, potentially fatal bleeds.
Objectives:
Congenital Factor 13 Deficiency (FXIIID) is a rare bleeding disorder (RBD) of autosomal recessive inheritance, with an incidence of 1 in 3-5 million. The clinical symptomatology, diagnosis, and management of FXIIID are described.
Methods:
A retrospective chart review of children with FXIIID was performed from January 2000 through October 2021 at a tertiary care center in Southern India. The diagnosis was performed by the Urea clot solubility test (UCST) and Factor XIII antigen assay.
Results:
Twenty children (representing 16 families) were included. Male: Female ratio was 1.5:1. The median age of symptom onset was 6 mo, and the median age of diagnosis was 1 y, demonstrating a delay in diagnosis. Consanguinity was present in 15 (75%) with 4 children having affected siblings. Clinical symptomatology ranged from mucosal bleeds to intracranial bleeds and hemarthrosis, with many children having a history of prolonged umbilical bleeding in their neonatal period. Fourteen children were on cryoprecipitate prophylaxis. Four children had breakthrough bleeds due to irregular prophylaxis, including one intracranial bleed due to a delay in cryoprecipitate prophylaxis during the covid pandemic.
Conclusions:
Congenital FXIIID presents with a wide range of bleeding manifestations. The high prevalence of consanguinity in Southern India can be a cause of FXIIID's high prevalence in this region. There is a propensity for intracranial bleeding with a significant number having this at first presentation. Regular prophylaxis is required and feasible to prevent potentially fatal bleeds.
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