Peripheral Blood Smear Findings in Hereditary Pyropoikilocytosis

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Peripheral Blood Smear Findings in Hereditary Pyropoikilocytosis

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Author: Maiah Zarrabi, MD; Aviv Oren, MD; Saranya Veluswamy, MD
Category: Red Cell: Hemolytic Anemia (HA) > HS/HE and RBC membrane or enzyme Disorders
Published Date: 07/07/2026

A 6-year-old female presented with microcytosis (MCV 59 fL), markedly elevated RDW-CV (46.4%), and laboratory evidence of hemolysis, including elevated unconjugated bilirubin and LDH. Hemoglobin was normal for age (11.3 g/dL). Peripheral blood smear showed anisopoikilocytosis composed of microspherocytes, spherocytes, elliptocytes, target cells, and red blood cell fragments. Genetic testing confirmed compound heterozygosity for two mutations in the SPTA1 gene, consistent with a diagnosis of hereditary pyropoikilocytosis.

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