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Clinical Profile of Congenital Factor XIII Deficiency in Children

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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.


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.


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.


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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The authors are thankful to the parents of Factor XIII-deficient children registered at SJMCH, for providing the necessary information.

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AP: Conceived the idea & study design; NKN, EFP: Data collection, NKN: Wrote the paper; SS, AP: Revised the paper. AP will act as guarantor for this paper.

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Correspondence to Anand Prakash.

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The study was approved by the Institutional Ethics Committee (IEC Ref. 408/2021).

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Nadakuditi, N.K., Peters, E.F., Subramanian, S. et al. Clinical Profile of Congenital Factor XIII Deficiency in Children. Indian J Pediatr 91, 223–228 (2024).

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