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Phytosterolemia

Phytosterolemia
#00064548
Author: Davood Bashash; Amir-Mohammad Yousefi; Hossein Seyed Majidi
Category: Red Cell: Other Disorders
Published Date: 06/21/2023

Peripheral Blood Smear of a 56 years old woman showed Moderate Stomatocytosis (about 40%) together with Macro-Thrombocytopenia (PLT: 96×109/L; MPV: 17.4 fL).Simultaneous presence of Stomatocytosis Macrothrombocytopenia may be due to Phytosterolemia. Measurement of plasma phytosterols or molecular analysis of ABCG5 and ABCG8 genes mutations are the next steps.