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

  • Hojat Shahraki Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran
  • Akbar Dorgalaleh Mail Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran
  • Majid Fathi Department of Medical Biotechnology, School of Allied Medicine, Iran University of Medical Sciences. Tehran- Iran
  • Shadi Tabibian Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran
  • Shahram Teimourian Department of Medical Genetics, School of Medicine, Iran University of Medical Sciences, Tehran, Iran
  • Hasan Mollanoori Department of Medical Genetics, School of Medicine, Iran University of Medical Sciences, Tehran, Iran
  • Alireza Khiabani School of Medicine, Bam University of Medical Sciences, Bam, Iran
  • Farhad Zaker Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran
Keywords:
Factor XIII deficiency, Intracranial hemorrhage, Founder effect, Genetic Markers

Abstract

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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Published
2020-10-07
How to Cite
1.
Shahraki H, Dorgalaleh A, Fathi M, Tabibian S, Teimourian S, Mollanoori H, Khiabani A, Zaker F. How to Assess Founder Effect in Patients with Congenital Factor XIII Deficiency. Int J Hematol Oncol Stem Cell Res. 14(4):248-256.
Section
Review Article(s)