Factor XIII Deficiency in Three Iraqi patients with a Variations in Gene F13A1 Detected by Next Generation Sequencing

Abstract

Factor XIII (FXIII) plays a crucial function in the coagulation process by stabilizing the hemostatic clot. FXIII deficiency is linked to a higher susceptibility to bleeding, with dominance of approximately one case per two million individuals in the general population.The most common causes of FXIII deficiency result from a genetic variation in FXIII- A1 gene. The aim of this study is Identifying the variations of FXIII gene among Iraqi patients through whole Exome Sequencing using Next Generation Sequencing Technology of the Proband is the major objective of this work. Three variants were detected among three samples, involved: c.1814 T>C (p. Leu605pro; NM_00129.4), c.1478T>A (p. Leu493Ter; NM_00129.4), and c.1113-1G>A, NM_000129.4), located in the F13A1 gene. Also, in one of the samples A variation was observed in two other genes called CD36 (c.1079T>G (p. Leu360Ter NM_001001548.2), and DDX58 gene c.1527 T>G (p. Tyr509Ter; NM_ 014314.4). The all detected variant in F13 A1gene been in homozygosis and parents in heterozygosis.