Persistent (true) HPP. A boy of Iranian descent presented with severe anemia since infancy. He remained transfusion dependent; therefore, his erythrocyte phenotype was not evaluable. (A) A blood smear of the father (practically identical with the blood smear of the mother) and (B) ektacytometry showing a trapezoid shape typical for HE for both parental samples indicated that they both had elliptocytosis. NGS on a panel of RBC membrane disorder genes revealed that the patient was homozygous for a novel missense mutation in the SPTB gene (c.6040T>G, p.F2014V), affecting the spectrin self-association site. Both parents were heterozygous for the same mutation.²⁴