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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
PubMed
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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.

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  • 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.