Hereditary pyropoikilocytosis

Hereditary pyropoikilocytosis is a rare membrane disorder caused by mutations in the genes encoding alpha-spectrin. Its main manifestation is variable hemolytic anemia. Microcytic poikilocytes in peripheral blood smear are a characteristic but not exclusive finding. Although definite diagnosis is made by massive sequencing identification of the related mutations, cytology is still a useful tool for carrying out an appropriate differential diagnosis and in guiding the molecular study. In addition, morphological follow-up allows the identification of a subgroup of patients that will evolve clinically and morphologically to mild congenital elliptocytosis. These subjects have been classified by some authors as infantile poikilocytosis. We present the case of a patient with infantile transient poikilocytosis.