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Hereditary pyropoikilocytosis blood smear with RBC fragments miscounted as platelets, causing artefactual thrombocytosis (pseudothrombocytosis)

Hereditary pyropoikilocytosis blood smear with RBC fragments miscounted as platelets, causing artefactual thrombocytosis (pseudothrombocytosis)

Peripheral blood smear from an asymptomatic individual with microcytic anemia. Automated CBC analysis showed Hb 10.7 g/dL, MCV 70.1 fL, MCH 23 pg, and platelet count of 874,000/microL. The blood smear had marked anisopoikilocytosis with fragmented RBCs, elliptocytes, Howell-Jolly bodies, and normal platelet number. EMA binding fluorescence intensity ratio was 0.84, and NGS identified a pathogenic variant in the alpha spectrin gene, SPTA1 (c.83G>A; p.Arg28His), consistent with HPP.

These findings demonstrate the importance of blood smear review to exclude thrombocytosis and confirm a RBC disorder as the cause.

CBC: complete blood count; EMA: eosin-5-maleimide; Hb: hemoglobin; HPP: hereditary pyropoikilocytosis; MCH: mean corpuscular hemoglobin; MCV: mean corpuscular volume; NGS: next-generation DNA sequencing; pg: picograms; RBC: red blood cell.
From: Molina-Arrebola M-A, Morales-Pineda M, Bain BJ. Hereditary pyropoikilocytosis resulting in artefactual thrombocytosis. Br J Haematol 2025; 206:13. https://onlinelibrary.wiley.com/doi/10.1111/bjh.19868. Copyright © 2025 British Society for Haematology and John Wiley & Sons Ltd. This image has been provided by or is owned by Wiley. Further permission is needed before it can be downloaded to PowerPoint, printed, shared or emailed. Please contact Wiley's permissions department either via email: [email protected] or use the RightsLink service by clicking on the 'Request Permission' link accompanying this article on Wiley Online Library (https://onlinelibrary.wiley.com/).
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