Author

A. Maschan

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Open access Aug 2026

Thiamine-responsive megaloblastic anemia in two Ingush siblings with a homozygous SLC19A2 c.1223+1G>A variant

Thiamine-responsive megaloblastic anemia (Rogers syndrome; OMIM #249270) is a rare autosomal recessive disorder caused by pathogenic variants in the SLC19A2 gene, which encodes the high-affinity thiamine transporter type 1. The disease is characterized by the classic triad of symptoms: megaloblastic anemia, non-autoimm...

M. Gurzhikhanova, T. Salimova, O. Goronkova et al. · Pediatric Hematology/Oncolog... · 0 citations

Open access Aug 2026

The role of allogeneic hematopoietic stem cell transplantation in the treatment of rare inherited bone marrow failure syndromes with cancer predisposition

Introduction. Inherited bone marrow failure syndromes (IBMFS) caused by germline pathogenic variants in hematopoietic genes are associated with a high risk of developing myelodysplastic syndrome (MDS) and acute myeloid leukemia. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) remains the only curative tr...

M. S. Vasilyeva, A. Maschan, E. Raykina et al. · Pediatric Hematology/Oncolog... · 0 citations

Review Open access Aug 2026

Rare inherited bone marrow failure syndromes with cancer predisposition associated with SRP72, SH2B3, MYSM1 and CBL variants: a literature review and case series

The findings highlight the importance of early molecular genetic testing in children with persistent hematopoietic abnormalities, along with regular cytogenetic surveillance and timely referral of high-risk patients for HSCT.

M. S. Vasilyeva, A. Pavlova, D. Fedorova et al. · Pediatric Hematology/Oncolog... · 0 citations