Abstract

Presented are three clinical observations of patients with a rare, but one of the oldest, genetic disease, which according to modern concepts belongs to the group of autoinflammatory diseases — familial Mediterranean fever. In the cases described, the diagnosis was first made in adulthood. The main purpose of the description of these cases is to draw the attention of practitioners to the possibility of early diagnosis and adequate pathogenetic therapy of this cohort of patients with an ethnic predisposition, but manifested regardless of the place of modern residence.

Highlights

  • Hereditary spherocytosis (NS) is hereditary hemolytic anemia due to a defect in the erythrocyte membrane, leading to a characteristic change in the shape of erythrocytes, which is heterogeneous in terms of the severity of clinical manifestations, defects in membrane proteins and the type of inheritance

  • The clinical course of NS varies in severity from asymptomatic to severe with massive hemolysis

  • An important role belongs to the knowledge of the family history and a comprehensive examination, which makes it possible to exclude other causes of hemolysis

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Summary

Introduction

Hereditary spherocytosis (NS) is hereditary hemolytic anemia due to a defect in the erythrocyte membrane, leading to a characteristic change in the shape of erythrocytes (spherocytes), which is heterogeneous in terms of the severity of clinical manifestations, defects in membrane proteins and the type of inheritance. A clinical observation of hereditary spherocytosis in an elderly patient For citation: Burtseva E.A, Snezhko I.V., Nagornaya G.Yu., Shatokhin Yu.V. A clinical observation of hereditary spherocytosis in an elderly patient.

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