Validation of immunofluorescence analysis of blood smears in patients with inherited platelet disorders

THROMKIDplus Patient Registry and Biomaterial Banking for Children with Inherited Platelet Disorders

“…These include information on microscopic evaluation of blood or bone marrow smears, coagulation factor activities, or platelet function tests, especially aggregometry. 15 Detailed documentation of findings is usually performed in case of borderline or pathological findings. In addition, the upload of image files of microscopic images of smears or scans of aggregation curves for comparative analysis in downstream research projects and the entry of laboratory data retrospectively for any time point is also possible.…”

Platelet expression of the transcription factor ETV6 associates with ETV6‐related thrombocytopenia and can be detected by immunofluorescence on the blood film

“…By recognition of specific morphological changes, the method has been validated as a screening tool for nine different IPDs including the most frequent forms of HTP. 6 For ETV6-related thrombocytopenia (ETV6-RT), [7][8][9] no specific morphological changes have been reported so far.…”

“…Blood films were prepared using fresh EDTA-blood and shipped to the Greifswald Laboratory, where they were analysed as previously described. 6 Along with our standard antibody panel against 13 platelet markers (Table S1), the expression of ETV6 was assessed. In fact, it has been shown that mutations impairing the ETV6 DNA-binding property reduce its prevalent nuclear localization in the bone marrow megakaryocytes, leading to a predominant cytoplasmic or equivalent nuclear-and-cytoplasmic expression of the protein.…”

“…Marcel Baschin 1,2 Leonard Vater 1 Anna Karastaneva 3 Susanne Holzhauer 4 Eva Leinøe 5 Andreas Ørslev Rasmussen 6 Jan Wesche 1 Carmen Freyer 1 Markus G. Seidel 3 Andreas Greinacher…”

Semiautomatic assessment of immunofluorescence microscopy on blood smears in inherited platelet disorders using artificial intelligence: a proof of concept.

“…Despite advances in molecular diagnosis, platelet phenotyping still represents a cornerstone in the diagnostic workup of IPD. Immunofluorescence microscopy on the blood smear, combined with light microscopy, has been established as a screening tool for IPD and validated as sensitive and specific for 9 of the most frequent IPD 1 . A major drawback of the method lies in the subjective nature of morphological evaluation.…”