Hereditory Elliptocytosis- Peripheral smear image(100x)showing more than 30% of elliptical shaped RBCs.

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Hereditory Elliptocytosis- Peripheral smear image(100x)showing more than 30% of elliptical shaped RBCs.

#00064636

Author: Riddhi Patel; Tulsi Jariwala
Category: Myeloid Neoplasms and acute leukemia (WHO 2016) > Myeloproliferative Neoplasms (MPN) > Chronic Myelogenous Leukemia (CML), BCR-ABL1+ > Blast phase > Peripheral blood
Published Date: 09/11/2023

A 39 years old male patient, on peripheral smear examination, >30% elliptocytes were seen incidentally. His Serum Iron studies and Hemoglobin were normal.It is an autosomal dominant disorder with hallmark of elliptical shaped RBC in peripheral blood smear ranging from 15-100% of total RBCs.
Its course ranges from asymptomatic carrier state to moderate /severe hemolytic anemia.Confirmation by- molecular testing of mutation in genes encoding alpha-spectrin(SPAT1), Beta-spectrin( SPTB) and Protein 4.1(EPB41 )

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