Hereditary microspherocytosis in children: diagnostic algorithm of typical and atypical course

Abstract

Anemic syndrome in a child in the practice of a primary care doctor is a frequent problem that requires a balanced differential diagnosis. Features of the course and difficulties in the diagnosis of hemolytic anemia require attention to key points. Hemolytic anemia is characterized by a reduction in the life span of erythrocytes, which is clinically manifested by jaundice due to indirect hyperbilirubinemia, splenomegaly, and skeletal deformities during a long course. Considering the seriousness of the prognosis for hemolytic anemia, it was considered appropriate to demonstrate specific practical nuances of managing such patients in specific clinical cases.

Clinical cases clearly demonstrate the need for careful collection of family anamnesis and additional examination of brothers/sisters, parents when hereditary microspherocytosis is suspected. Diagnostic criteria of hereditary hemolytic anemia are: jaundice (due to indirect hyperbilirubinemia), splenomegaly, anemia, reticulocytosis, similar cases in the family. It is presented a case when hemolytic crises in a child were accompanied by a transient increase in liver transaminases, in the absence of changes in ultrasound examination and negative markers of viral hepatitis.

Conclusions. An anemic syndrome established in a child in combination with reticulocytosis requires a targeted examination for hemolytic genesis of anemia. At the same time, it should be remembered that in the case of an atypical course of hereditary microspherocytosis, the patient needs a comprehensive examination and dynamic monitoring of the course of hemolytic anemia in order to prevent serious complications.

The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies.

No conflict of interests was declared by the author.