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Updated: Aug 9, 2025

Isolation of Fidelity Variants of RNA Viruses and Characterization of Virus Mutation Frequency
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Published on: June 16, 2011

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Spectrum of Causative Mutations in Patients with Hemophilia A in Russia

Olesya Pshenichnikova1, Valentina Salomashkina1, Julia Poznyakova1

  • 1Laboratory of Genetic Engineering of National Medical Research Center for Hematology, Novy Zykovski Lane 4a, 125167 Moscow, Russia.

Genes
|February 25, 2023
PubMed

Hemophilia A (HA) is one of the most widespread, X-linked, inherited bleeding disorders, which results from defects in the F8 gene. Nowadays, more than 3500 different pathogenic variants leading to HA have been described. Mutation analysis in HA is essential for accurate genetic counseling of patients and their relatives. We analyzed patients from 273 unrelated families with different forms of HA. The analysis consisted of testing for intron inversion (inv22 and inv1), and then sequencing all functionally important F8 gene fragments. We identified 101 different pathogenic variants in 267 patients, among which 35 variants had never been previously reported in international databases. We found inv22 in 136 cases and inv1 in 12 patients. Large deletions (1-8 exons) were found in 5 patients, and we identified a large insertion in 1 patient. The remaining 113 patients carried point variants involving either single nucleotide or several consecutive nucleotides. We report herein the largest genetic analysis of HA patients issued in Russia.

Keywords:
F8 genegenetic diagnosticshemophilia Apathogenic variant

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