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

Factor XIII deficiency Founder effect Genetic markers Intracranial hemorrhage

Journal

International journal of hematology-oncology and stem cell research
ISSN: 2008-3009
Titre abrégé: Int J Hematol Oncol Stem Cell Res
Pays: Iran
ID NLM: 101511150

Informations de publication

Date de publication:
01 Oct 2020
Historique:
entrez: 19 2 2021
pubmed: 20 2 2021
medline: 20 2 2021
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.18502/ijhoscr.v14i4.4480 PMID: 33603988 PMC: PMC7876424
pubmed: 33603988
doi: 10.18502/ijhoscr.v14i4.4480
pii: IJHOSCR-14-265
pmc: PMC7876424
doi:

Types de publication

Journal Article Review

Langues

eng

Pagination

265-273

Informations de copyright

Copyright © 2020 Tehran University of Medical Sciences.

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Auteurs

Hojat Shahraki (H)

Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran.

Akbar Dorgalaleh (A)

Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran.

Majid Fathi (M)

Department of Medical Biotechnology, School of Allied Medicine, Iran University of Medical Sciences. Tehran- Iran.

Shadi Tabibian (S)

Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran.

Shahram Teimourian (S)

Department of Medical Genetics, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.

Hasan Mollanoori (H)

Department of Medical Genetics, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.

Alireza Khiabani (A)

School of Medicine, Bam University of Medical Sciences, Bam, Iran.

Farhad Zaker (F)

Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran.

Classifications MeSH