International Journal of Hematology-Oncology and Stem Cell Research (Oct 2020)

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
https://doi.org/10.18502/ijhoscr.v14i4.4480
Journal volume & issue
Vol. 14, no. 4

Abstract

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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 FXIII01 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.

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