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Glanzmann Thrombasthenia: A Clinicopathological Profile
Irem Iqbal1, Saima Farhan2, Nisar Ahmed2
1Department of Hematology, Postgraduate Medical Institute/ Ameer Uddin Medical College, Lahore.
Summary
Glanzmann
Area of Science:
- Hematology
- Pediatric Hematology
Background:
- Glanzmann's thrombasthenia (GT) is a rare inherited platelet function disorder.
- Mucocutaneous bleeding is a common presentation in patients with GT.
Purpose of the Study:
- To describe the clinical presentation of Glanzmann's thrombasthenia (GT) patients.
- To evaluate diagnostic, clinical, and laboratory parameters in GT patients, including platelet aggregometry.
Main Methods:
- A descriptive study was conducted from January 2006 to December 2013.
- Patients with mucocutaneous bleeding evaluated for inherited platelet function disorders were included.
- Clinical data, family history, and laboratory investigations (CBC, PBS, BT, APTT, PT, platelet aggregation) were analyzed.
Main Results:
- 163 out of 796 patients (20.4%) were diagnosed with Glanzmann's thrombasthenia.
- Common symptoms included easy bruising, gum bleeding, epistaxis, and prolonged bleeding after injury.
- Platelet aggregation studies showed significantly reduced response to ADP, Collagen, and Epinephrine in all patients.
Conclusions:
- Glanzmann's thrombasthenia is prevalent in the studied population, potentially linked to consanguinity.
- GT presents across a wide age range, highlighting the need for increased awareness for early diagnosis and management.
- Further collaborative studies are recommended to determine the true incidence of GT in Pakistan.
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