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Review
. 2020 Oct 1;14(4):265-273.
doi: 10.18502/ijhoscr.v14i4.4480.

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

Hojat Shahraki  1 , Akbar Dorgalaleh  1 , Majid Fathi  2 , Shadi Tabibian  1 , Shahram Teimourian  3 , Hasan Mollanoori  3 , Alireza Khiabani  4 , Farhad Zaker  1
Affiliations
Review

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

Hojat Shahraki et al. Int J Hematol Oncol Stem Cell Res. .

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.

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Figures

Figure 1
Figure 1
How to diagnose FXIII deficiency suspected individuals
Figure 2
Figure 2
Schematic figure of chromosomal location of candidate microsatellites and SNPs of F13A gene
Figure 3
Figure 3
Evaluating association of founder effect with FXIII deficiency by step-by-step diagnostic algorithm
See this image and copyright information in PMC

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