الفهرس 
THROMBOCYTOPENIAOnly 14 pages are availabe for public view
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Abstract
Background: Childhood hereditary thrombocytopathies are an undiagnosed group of disorders that are mis-attributed to immunological etiology. In this study we aimed at identifying misdiagnosed cases of hereditary thrombocytopenia and thrombasthenia.
Patients and methods: This cross sectional study included 67 patients with chronic thrombocytopenia and undiagnosed bleeding followed at Ain Shams University pediatrics hematology clinic. They were divided into; group I (n=47) with low platelet count and group II (n=20) with normal platelet count. Diagnostic approach was applied consisting of primary level of investigations included complete blood counts (CBC) with mean platelet volume (MPV) and light microscopic study of platelet morphology and granules and white blood cell count (WBCs) granules. Secondary level of investigations included flow cytometric analysis for platelet surface glyco-proteins, Tertiary level of investigations included bone marrow aspirate, electron microscope and genetic study when required.
Results: 25% of the patients were diagnosed as inherited thrombocytopenia and 25% as thrombasthenia. Probable diagnosis was reached in 34 patients (50.7%). Platelet glycoproteins diagnosed 24 patients (16 patients (23.9%) as Glanzmann`s thrombasthenia, 7 patients (10.4%) as Bernard Soulier syndrome and 1 patient (1.5 %) was diagnosed as collagen receptor defect with no significant correlation with their bleeding severity. Genetic testing confirmed diagnosis of 6 patients (4 patients (5.9%) as congenital amegakaryocytic thrombocytopenia (CAMT), 2 patients (3%) as Wiskott Aldrich syndrome).
Conclusion: Applying a diagnostic approach showed the importance of platelet glycoproteins and targeted gene testing in identifying the underdiagnosed cases of hereditary thrombocytopenia and thrombasthenia.