Multidisciplinary approach to management of patients with hereditary spherocytosis Clinical observation

Hereditary spherocytosis (HS) is a hemolytic anemia developing due to genetically induced defect in the erythrocyte membrane causing change in its shape. According to the results of studies, defects in the associated membrane proteins are caused by key mutations in the SLC4A1, EPB42, SPTA1, SPTB and ANK1 genes. The same mutation in different parts of a gene can lead to different clinical manifestations, therefore the studies of correlations between genotype and phenotype are necessary. Absence of wide availability, 100 % sensitivity and specificity of the laboratory methods used, as well as familial medical history in some cases, in conjunction with non-conformance with the clinical picture can lead to errors in HS diagnosis. Therefore, multidisciplinary approach is necessary. Progress in molecular biology led to development of next-generation sequencing which can aid in identification of new gene variants, analysis of their structure and potential pathogenicity. This will allow to significantly improve diagnostics and apply personalized treatment of HS. The article presents results of clinical and diagnostic observation of a 45-year-old female patient whose condition due to hemolytic crisis determined the necessity of using comprehensive approach to therapy on an urgent basis in conjunction with differential diagnostic search and identification of the cause of anemia.