How to Assess Founder Effect in Patients with Congenital Factor XIII Deficiency

Hojat  Shahraki; Akbar  Dorgalaleh; Majid  Fathi; Shadi   Tabibian; Shahram   Teimourian; Hasan Mollanoori; Alireza   khiabani; Farhad  Zaker

doi:10.18502/ijhoscr.v14i4.4480

Hojat Shahraki
Akbar Dorgalaleh
Majid Fathi
Shadi Tabibian
Shahram Teimourian
Hasan Mollanoori
Alireza khiabani
Farhad Zaker

DOI: https://doi.org/10.18502/ijhoscr.v14i4.4480

Keywords: Factor XIII deficiency, Intracranial hemorrhage, Founder effect, Genetic Markers

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.