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

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.

SUBMITTER: Shahraki H

PROVIDER: S-EPMC7876424 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature

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

Shahraki Hojat H Dorgalaleh Akbar A Fathi Majid M Tabibian Shadi S Teimourian Shahram S Mollanoori Hasan H Khiabani Alireza A Zaker Farhad F

International journal of hematology-oncology and stem cell research 20201001 4

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 ...[more]

PMID: 33603988

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