Hereditary Pyropoikilocytosis (SPTA1 Gene Pathologic Variant)

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Hereditary Pyropoikilocytosis (SPTA1 Gene Pathologic Variant)

#00064092

Author: Nicholas Moran
Category: Red Cell: Hemolytic Anemia (HA) > HS/HE and RBC membrane or enzyme Disorders
Published Date: 09/06/2022

This peripheral blood smear is from a 46 year-old healthy, otherwise asymptomatic male wtih chronic low grade anemia. This image shows microcytic anemia (MCV 68), with marked anisopoikilocytosis (red cells of different sizes and shapes) including increased elliptocytes, poikilocytes, and fragmented red blood cells. A Hereditary Hemolytic Anemia Panel Sequencing test was sent for this patient, notable for a pathologic variant of the SPTA1 Gene consistent with Hereditary Pyropoikilocytosis.

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