Clinical case of late diagnosis of hereditary microspherocytosis

Abstract

Hereditary spherocytosis is a congenital hemolytic anemia, with an autosomal dominant type of inheritance, characterized by a violation of the structure of the erythrocyte membrane (microspherocytosis), increased osmotic fragility of erythrocytes, excessive destruction in the vasculature of the spleen, with a pronounced favorable response to splenectomy. Excessive destruction of red blood cells leads to anemia, reticulocytosis, hyperbilirubinemia (due to the indirect fraction) followed by cholelithiasis. The factor that aggravates the course of microspherocytosis is folate deficiency, which can appear both in people with limited nutrition and in pregnant women.