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

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

Int J Hematol Oncol Stem Cell Res. 2020 Oct 1;14(4):265-273. doi: 10.18502/ijhoscr.v14i4.4480.

Authors

Hojat Shahraki¹, Akbar Dorgalaleh¹, Majid Fathi², Shadi Tabibian¹, Shahram Teimourian³, Hasan Mollanoori³, Alireza Khiabani⁴, Farhad Zaker¹

Affiliations

¹ Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran.
² Department of Medical Biotechnology, School of Allied Medicine, Iran University of Medical Sciences. Tehran- Iran.
³ Department of Medical Genetics, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
⁴ School of Medicine, Bam University of Medical Sciences, Bam, Iran.

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; Founder effect; Genetic markers; Intracranial hemorrhage.

Publication types

Review