Severe Hereditary Pyropoikilocytosis/Hereditary Elliptocytosis-Like Phenotype Associated With a Heterozygous SPTA1 Variant in a Cambodian Girl: A Case Report

Background

Hereditary elliptocytosis (HE) is typically a mild or asymptomatic red blood cell membrane disorder characterized predominantly by elliptocytes, whereas hereditary pyropoikilocytosis (HPP) represents the severe end of the HE spectrum, with early-onset hemolysis, marked poikilocytosis, red cell fragmentation, and pronounced membrane instability. We report a Cambodian girl with a severe HPP/HE-like phenotype associated with a heterozygous SPTA1 variant of uncertain significance, emphasizing the importance of integrating clinical, hematologic, morphologic, and molecular findings to support accurate diagnostic classification.