We report a novel mutation in factor XIIIA gene that caused severe congenital factor XIII deficiency in a 6 year and 8 month old male. The mutation is a GA deletion in the core domain leading to a premature stop at codon 502. The child had severe deficiency with two episodes of intracerebral hemorrhage. He also developed spontaneous splenic rupture, an unusual complication of this disorder.
- Clotting factor related research
- Hemophilia and other bleeding disorders
ASJC Scopus subject areas
- Cancer Research
- Pediatrics, Perinatology, and Child Health