Author/Authors :
Shahraki, Hojat Department of Hematology and Blood Transfusion - School of Allied Medicine - Iran University of Medical Sciences , Dorgalaleh, Akbar Department of Hematology and Blood Transfusion - School of Allied Medicine - Iran University of Medical Sciences , Fathi, Majid Department of Medical Biotechnology - School of Allied Medicine - Iran University of Medical Sciences , Tabibian, Shadi Department of Hematology and Blood Transfusion - School of Allied Medicine - Iran University of Medical Sciences , Teimourian, Shahram Department of Medical Genetics - School of Medicine - Iran University of Medical Sciences , Mollanoori, Hasan Department of Medical Genetics - School of Medicine - Iran University of Medical Sciences , khiabani, Alireza School of Medicine - Bam University of Medical Sciences , Zaker, Farhad Department of Hematology and Blood Transfusion - School of Allied Medicine - Iran University of Medical Sciences
Abstract :
Congenital factor XIII (FXIII) deficiency is an extremely rare bleeding disorder (RBD) with estimated prevalence of one per 2 million in the general population. The disorder causes different clinical manifestations such as intracranial hemorrhage (ICH), recurrent miscarriage, umbilical cord bleeding, etc. High incidence of the disorder might be due to founder effect. To assess founder effect, haplotype analysis is an important step. For this purpose, suitable and reliable genetic markers such as microsatellites (Hum FXIIIA01 and HumFXIIIA02) and single nucleotide polymorphisms (SNP) are suggested. In the present study we tried to describe evaluation of founder effect in patients with congenital FXIII deficiency via haplotype analysis using suitable genetic markers.
Keywords :
Factor XIII deficiency , Intracranial hemorrhage , Founder effect , Genetic markers
