Congenital factor XIII (FXIII) deficiency, the most under diagnosed disorder is caused mainly due to underlying defects in the catalytic A subunit of FXIII. More than 100 mutations throughout the factor XIII A gene (F13A1) have been identified so far. Present study aims to characterize the molecular basis of severe congenital FXIII deficiency in a large series of patients from different parts of India. F13A1 defects were identified in 37 severe FXIII deficient unrelated Indian patients by direct DNA sequencing. 25 mutations were detected, of which 10 were missense, 9 nonsense, 3 splice site and 3 deletions; 14 were novel. This is the largest series of FXIII deficient cases reported from India in which mutations were analysed with high heterogeneity in the nature of mutations along with several common mutations.
Keywords: Factor XIIIA deficiency; Genetic diagnosis; India; Novel mutations; Rare bleeding disorder.
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