ArticleInternational journal of laboratory hematology2026
Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience.
Article in International journal of laboratory hematology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundInherited platelet disorders (IPDs) are rare hematologic conditions encompassing a heterogeneous spectrum of quantitative and qualitative platelet defects, frequently associated with variable clinical phenotypes and comorbidities. Accurate diagnosis necessitates comprehensive genetic characterization, detailed clinical and bleeding history, and systematic evaluation of platelet count, size, and function, which are essential to distinguish IPDs from immune thrombocytopenia (ITP).
aimThe aim of this study was to clinically and genetically characterize a total of 269 patients from 140 families with platelet disorders, evaluated at the First Chair, Department of Medicine, University of Padua.
methodsPatients with suspected platelet disorders underwent comprehensive laboratory evaluation, and Sanger sequencing was performed to identify causative variants in approximately 30% of cases.
resultsWe identified 80 patients from 44 families who were found to carry pathogenic or likely pathogenic variants, with the most frequent ones being linked to Bernard-Soulier syndrome (BSS), characterized by thrombocytopenia and bleeding tendency. Additionally, 23 subjects had MYH9 gene variants and one patient was affected by Glanzmann thrombasthenia. We also discovered seven pathogenic variants not previously described in the literature.
conclusionDue to the limitations of the Sanger method, the molecular defect could only be defined in approximately 30% of cases. In the remaining 70% of patients, the genetic cause remained unidentified, highlighting the need for further evaluation using an extended NGS panel targeting genes associated with inherited thrombocytopenias.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.