Disease Directory Glanzmann Thrombasthenia
Blood

Glanzmann Thrombasthenia

Also known as: GT, thrombasthenia of Glanzmann and Naegeli, ITGA2B/ITGB3 deficiency

Prevalence

Less than 1 in 1,000,000; higher in consanguineous populations

Onset

Infancy; bleeding typically apparent with first hemostatic challenges

Type

Autosomal recessive

Gene

ITGA2B, ITGB3

About Glanzmann Thrombasthenia

Glanzmann thrombasthenia is a rare inherited platelet function disorder caused by biallelic mutations in ITGA2B or ITGB3 encoding the platelet integrin alphaIIbbeta3 (glycoprotein IIb/IIIa), the principal platelet surface receptor for fibrinogen, which is essential for platelet aggregation and primary hemostasis. Three types are recognized: type I (less than 5% alphaIIbbeta3 expression), type II (10-20% expression), and type III (variant with dysfunctional receptor), all resulting in severely impaired platelet aggregation with all physiological agonists despite a normal platelet count. The condition causes lifelong mucocutaneous bleeding with particularly severe implications for surgical procedures, trauma, and childbirth.

Common Clinical Features

Lifelong mucocutaneous bleeding disproportionate to platelet count Severe menorrhagia in adolescent and adult females Recurrent epistaxis and gingival bleeding Prolonged bleeding after minor wounds and dental procedures Gastrointestinal bleeding Ecchymoses and purpura Normal platelet count with absent platelet aggregation on aggregometry Absence of clot retraction in type I

Clinical Trial Eligibility Tips

What to know before applying to Glanzmann Thrombasthenia trials.

Platelet aggregometry showing absent aggregation with ADP, collagen, epinephrine, and thrombin receptor activating peptide (TRAP) but normal ristocetin-induced agglutination is diagnostic and required for trial enrollment.

Alloantibody status against alphaIIbbeta3 from platelet transfusions is critical; patients with anti-alphaIIbbeta3 antibodies may be excluded from some trials but are specifically targeted in others testing novel hemostatic agents.

Bleeding Assessment Tool (BAT) scores and surgical or obstetric bleeding history should be documented; trials evaluating recombinant activated factor VII or thrombopoietin agents require detailed baseline bleeding phenotype.

Patient Resources

Patient Organization

Platelet Disorder Support Association

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Orphanet

European reference resource for rare diseases (ORPHA:849)

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NORD

National Organization for Rare Disorders

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