Five Novel SNPs in the Factor XIII A Subunit Gene Causing Hereditary Factor XIII Deficiency in Three Related Families

Abstract

Factor XIII deficiency (FXIIID) is an extremely rare autosomal recessive disorder, which cause coagulation distribution and it's mostly the mutations in FXIII A subunit. The aim of this study is to identify some mutations in the factor XIII (FXIII) gene among three related families originating from Baghdad-Iraq. The studied group consisted of nine people from three family’s relatives’ patients with FXIII deficiency, and the control groups of nine healthy people. Including the sex (female: 5 and male: 4) and mean age34.9±, the controls sex (female: 4 and male; 5) and age mean 35.5±. The patients’ demographic profiles, in the first family, the daughter suffered from muscle and joint bleeding, and poor wound healing, without symptoms appearing in the parents. In the second family, the father suffered from skin bleeding, the son from post-traumatic bleeding, and the daughter from childbirth bleeding, joints, nosebleeds, skin, and muscles. In the third family, the father and daughter did not show any symptoms. Genetic variants were determined using the sanger sequencing method, Polymerase chain reaction (PCR) was used, the distribution of SNPs location on exon 9 was, rs5977, rs5978, and exon 10 was, rs2274391, rs41302861, and rs924669371. Polymorphisms in patients with deficiency of coagulation factor XIII A Subunit. All SNPs of family appear heterozygous and homo recessive genotype