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

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...

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Detalles Bibliográficos
Autores principales: Shahraki, Hojat, Dorgalaleh, Akbar, Fathi, Majid, Tabibian, Shadi, Teimourian, Shahram, Mollanoori, Hasan, khiabani, Alireza, Zaker, Farhad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences, Hematology-Oncology and Stem Cell Transplantation Research Center 2020
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7876424/
https://www.ncbi.nlm.nih.gov/pubmed/33603988
http://dx.doi.org/10.18502/ijhoscr.v14i4.4480
Descripción
Sumario: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.

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