Active spread of β-thalassemia beyond the thalassemia belt: A study on a Russian population.

β-Thalassemia is a disease traditionally associated with thalassemia belt countries. Nonetheless, as global migration intensifies, β-thalassemia-causing variants spread far from their origin. We investigated this process to detect some patterns underlying its course.

Hb Ryazan: An Elongated C-Terminal β-Chain Due to a New Frameshift Mutation, HBB: c.396delG p.Val133Trpfs*25.

We identified a novel abnormal hemoglobin variant caused by a frameshift mutation at nucleotide position 396 in exon 3 of the β-globin gene (): NM_000518:c.396delG. This variant causes an emergence of alternative amino acid sequence starting at codon 133 and a new stop codon formed in the 3' untranslated region (3'UTR) of the gene at amino acid position 158.

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

Hemophilia A (HA) is one of the most widespread, X-linked, inherited bleeding disorders, which results from defects in the 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.

Factor XII deficiency: a clinical and molecular genetic study.

Factor XII deficiency is a rare inherited disorder caused by clotting factor XII (FXII, F12) deficiency. It is often asymptomatic but can have both thrombotic and haemorrhagic symptoms. The aim of this study was to describe the spectrum of F12 gene mutations in a Russian population and learn more about the relationship between F12 variants and clinical phenotypes.

Phylogeography of ancient and modern brown bears from eastern Eurasia.

The brown bear () is an iconic carnivoran species of the Northern Hemisphere. Its population history has been studied extensively using mitochondrial markers, which demonstrated signatures of multiple waves of migration, arguably connected with glaciation periods. Among Eurasian brown bears, Siberian populations remain understudied.