Advanced Research in Spherocytosis

Dear Colleagues,

Hereditary spherocytosis (HS) is one of the most frequently inherited congenital hemolytic anemias in people of central or northern Europe. This erythrocyte membranopathy is a clinically, biochemically, and genetically heterogeneous disorder in which the presenting phenotype is anemia (which can range from fully compensated to transfusion-dependent), jaundice, reticulocytosis, splenomegaly, gallstones, several spherocytes in a peripheral blood smear, and decreased erythrocyte osmotic resistance. Advanced research on spherocytosis is providing valuable insights into its genetic basis, pathophysiology, and developing new diagnostic methods and treatments. The description of the pathophysiology is mainly concerned with the effects of abnormal erythrocyte membrane proteins on the mechanical properties and osmotic resistance of the cells, which is crucial for their functionality and lifespan. Particularly important is the development of advanced diagnostic tools that help distinguish spherocytosis from other forms of anemia and determine the severity of the disease. Molecular diagnosis of spherocytosis requires searching the nucleotide sequence of a few genes encoding red blood cell membrane proteins to identify mutations. The uniqueness of the genetic defects related to this condition significantly impedes diagnosis. The development of high-efficiency genome sequencing methods, particularly whole genome sequencing, enabled researchers to identify new variants and understand their impact on the HS. Although splenectomy remains the primary treatment of spherocytosis, alternative therapies are being sought to avoid performing spleen removal. Pharmacological strategies and, in the longer term, the potential of gene therapy to correct the genetic defects underlying HS appear promising. This special collection of review and experimental  articles should enrich our knowledge of recent advances in this particular field.

Prof. Dr. Aleksander F. Sikorski
Dr. Dżamila M. Bogusławska
Guest Editors

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• hereditary spherocytosis (HS)
• hemolytic anemia
• erythrocyte membrane skeleton structure and function
• erythropoiesis
• clinical phenotype
• splenectomy
• genetic diagnosis
• NGS technologies
• genotype-phenotype correlation