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.

Diagnostic significance of flow cytometry scales in diagnostics of myelodysplastic syndromes.

Background: Myelodysplastic syndromes (MDS) can present a challenge for clinicians. Multicolor flow cytometry (MFC) can aid in establishing a diagnosis. The aim of this study was to determine the optimal MFC approach for MDS.

Laboratory tests for coagulation system monitoring in a patient with β-thalassemia.

Sensitive methods for assessment of the hemostatic state are essential for providing adequate therapy to patients with β-thalassemia. The present study was designed to monitor the changes in the hemostatic state of a patient with β-thalassemia at the primary stage and under heparin treatment following splenectomy. The hemostatic state of the patient was assessed using conventional tests (activated partial thromboplastin time, prothrombin index, thrombin time), fibrinogen and D-dimer assays, thromboelastography (TEG), thrombin generation test, and a novel thrombodynamics clot growth assay.