Genetic Spectrum in F13A1 Detected by Next-Generation Sequencing Among North Indian Patients with FXIII Deficiency.

ABSTRACT:

Purpose

The study aimed to explore the molecular defects underlying FXIII deficiency.

Materials and methods

Sixteen unrelated cases were enrolled based on the indication of the urea clot solubility test and Factor XIII-A antigen levels. Cases were further subjected to targeted next-generation sequencing (custom gene panel: F7, F8, VWF, F9, F13A1, F13B). The pathogenic/likely pathogenic variants were validated by Sanger sequencing in the patients and family members.

Results

Mean age of referral to our center was 27.2 years (8 week-67 years). Consanguinity was found in only one of the 16 cases and 9 cases presented in infancy. The most common symptoms were skin bleeds (69%) and umbilical cord bleed (50%). The clot solubility test was p

SUBMITTER: Sharma R 

PROVIDER: S-EPMC10064406 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature