Homozygous SPTA1-associated hereditary pyropoikilocytosis presenting as hydrops fetalis.
Rachel L BrancampCaitlin E HughesAnna DarAleksandra PolicLisa C ZuckerwiseGarrett S BoothPublished in: Transfusion (2023)
To our knowledge, this is the first report that correlates homozygosity of the SPTA1c.6154delG gene variant with RBC dysmorphology and establishes the diagnosis of HPP.