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Published on: December 15, 2011
Glanzmann's thrombasthenia
M B Agarwal1, U M Agarwal, C Viswanathan
1Department of Hematology, L.T.M.G. Hospital, Dadar, Bombay.
Indian Pediatrics
|July 1, 1992
Summary
Glanzmann's thrombasthenia (GT) is a rare bleeding disorder. This study identified 20 patients with GT, highlighting common bleeding symptoms and the need for transfusions.
Area of Science:
- Hematology
- Genetics
- Pediatrics
Background:
- Glanzmann's thrombasthenia (GT) is an inherited platelet function disorder.
- It is characterized by impaired platelet aggregation due to defects in integrin alpha-IIb-beta-3.
- GT presents with a variable bleeding phenotype, often diagnosed in childhood.
Purpose of the Study:
- To describe the clinical characteristics and demographic profile of Glanzmann's thrombasthenia patients.
- To analyze the patterns of bleeding and management strategies in affected individuals.
- To investigate the prevalence of consanguinity in families with Glanzmann's thrombasthenia.
Main Methods:
- Retrospective analysis of 20 patients diagnosed with Glanzmann's thrombasthenia between January 1981 and June 1991.
- Review of patient records for demographic data, family history, bleeding history, and treatment received.
- Analysis of consanguinity rates and religious/ethnic backgrounds within affected families.
Main Results:
- Twenty patients from 16 families were diagnosed with GT, with 75% of families reporting consanguinity.
- The mean age at diagnosis was 7.05 years, with initial bleeding episodes occurring before age 5.
- Common bleeding manifestations included epistaxis, gingival bleeding, post-traumatic bruising, and menorrhagia; hemarthrosis and intracranial bleeding were absent.
- Menorrhagia was a significant issue requiring transfusions and hormonal therapy; 60% of patients needed blood transfusions.
Conclusions:
- Glanzmann's thrombasthenia presents with significant mucocutaneous bleeding, particularly menorrhagia, often requiring blood product support.
- Consanguinity is highly prevalent in families with GT, suggesting a potential genetic predisposition in the studied population.
- Early diagnosis and management are crucial for patients with Glanzmann's thrombasthenia to mitigate bleeding complications.
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