Introduction. Hereditary spherocytosis (HS) is a hereditary hemolytic anemia caused by defects in erythrocyte membrane and cytoskeleton due to mutations mainly in five genes: ANK1, SPTB, SPTA1, SLC4A1, and EPB42. The genetic landscape of HS is characterized by considerable interpopulation variability.
Aim – to investi...
M. Lunyakova, E. Raykina, S. G. Kapranova et al.· Pediatric Hematology/Oncolog...· 0 citations
Hereditary spherocytosis (HS) is an inherited hemolytic anemia caused by mutations in the ANK1, SPTB, SLC4A1, SPTA1 and EPB42 genes encoding proteins involved in the vertical linkages between the skeletal network and the red blood cell membrane. Despite the accumulation of molecular genetic data, the relationship betwe...
M. Lunyakova, N. S. Smetanina· PEDIATRIA Journal named afte...· 0 citations
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
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