Determination of Factor II Codons Genotype in Southeastern Iranian Patients With Hereditary Deficiency of Factor II

Objectives: Congenital prothrombin (factor II) deficiency is an inherited rare bleeding disorder with autosomal recessive manner. The prevalence of this about one in 2000000 people general population, but it more common areas a high rate consanguinity. To date, there no report on the absence prothrombin, which life-threating disorder. Considering importance factor II body homeostasis, study aimed to find any possible mutation coagulation codons patients southeastern Iran. Materials andMethods: This was conducted 12 prothrombin. Early diagnosis based clinical symptoms, laboratory evaluation, and family history. Then, function level measured, initial disease confirmed, polymerase chain reaction (PCR) analysis performed. Finally, gene sequencing genotyping done. Results: Molecular indicated point exon 7 three frameshift 14 due addition thymine base at position 1760-1761 patient, both have been reported for first time. Conclusions: methods performed from Southeastern Iranian population terms revealed substitution were significant difference between symptoms present previous studies, probably type mutations (for time) caused these statistical studies did not show relationship occurrence symptoms. And needs investigations patients, larger population.