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Article

Spectrum of Causative Mutations in Patients with Hemophilia A in Russia.

Genes - 19 Jan 2023

Pshenichnikova Olesya, Salomashkina Valentina, Poznyakova Julia, Selivanova Daria, Chernetskaya Daria, Yakovleva Elena, Dimitrieva Oksana, Likhacheva Elena, Perina Farida, Zozulya Nadezhda, Surin Vadim

Abstract excerpt

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...

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Identifiers

PMID: 36833187
DOI: 10.3390/genes14020260
PMCID: PMC9957479

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Source receipt: pubmed, retrieved 7 Sept 2026.

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