This document summarizes information about Glanzmann thrombasthenia, a rare genetic platelet disorder. It is an autosomal recessive disease caused by a defect in the 11bß3 integrin complex, which prevents normal platelet aggregation and clot formation. This leads to excessive bleeding and bruising. Diagnosis involves tests like platelet function analyzer, flow cytometry, and platelet aggregation studies. Treatment focuses on medications to reduce bleeding risk, vaccines to prevent infection from frequent transfusions, and recombinant activated factor VII for patients with antibodies preventing normal platelet function.

1. Koh Ming Yao Group 88

2.  Genetic platelet disease (congenital)
 Autosomal recessive disease
 Affects chromosome 17
 11bß3 complex deficiency (defective platelet aggregation)

3.  Type I Glanzmann thrombasthenia: most common subtypes in North Indians
 absent GPIIb/IIIa
 type II
 GPIIb/IIIa levels varied from 7.72% to 20.40%
 type III
 clot retraction was 60% and GPIIb/IIIa 46.0% of normal
 It is more common if there is consanguinity in the family (marrying a blood relative)

4.  Normal conditions
 Injury stimulates binding of α11bß3 receptor to bind with fibrinogen and Von Willebrand factor
 Results in adjacent platelet cross linkage with 11ß3
 Blood will clot
 Abnormal (GT)
 Platelet will not aggregate and form cross linkage and will continue bleeding

7.  History
 Excessive bleeding post-dental extraction
 Petechiae (spontaneous ones are uncommon) and ecchymoses
 Menorrhagia (worse in menarche)
 Gingival bleeding (worse in poor dental hygiene)
 Epitaxis (nose bleeding)
 Hemoarthroses (rare)
 Familial bleeding disorders
 GIT bleeding/ hematuria

8.  Skin and oral mucosa
 Petechaie and ecchymoses
 Non palpable spleen

9.  Afibrinogenemia
 Auto-antibodies to glycoprotein Iia/IIIb
 Bernard Soulier syndrome/ platelet disorders
 Grey platelet syndrome, platelet von willebrand/ platelet storage pool defect
 Think of
 Platelet disorders
 Von willebrand disease
 Wiskott Aldrich syndrome

10.  Complete blood count
 Decrease in erythrocyte count (bleeding, concomitant FE deficiency)
 Prothrombin time
 Activated partial thromboplastin time (aPTT)
 Platelet function analyser 100 ( PFA 100)
 Platelets cannot plug collagen filter
 Flow cytometry
 Monoclonal antibody assay
 Platelet aggregation studies
Increase bleeding
time

11.  Consult haematologist
 Multiple transfusions in life (leukocyte depleted blood products)
 Mechanical filter
 Platelet matched to HLA antigen
 Helps to avoid alloimmunization
 Hepatitis B vaccine (avoid multi transfusion risk)
 Medication (platelet)-NSAID and aspirins
 Oral Contraceptives ( Menorrhagia treatment)
 Recombinant VII ( rFVIIa) Novoseven RT
 For patients have antibodies to glycoprotein IIb/IIIa or antibodies to HLA
 Surgical intervention needed

12.  Decrease active immunity
 Decrease morbidity
 Prevent complications

13. 1) Recombinant activated VII (rFVIIa)
 Novoseven RT (VIIa recombinant)
 in patients with antibodies that render ineffective transfusions
2) Vaccines for hepatitis B
 Recombivax HB/ Engerix B
 which may increase risk of multiple transfusions
3) Female oral contraceptives (control menorrhagia)
 Norethindrone/ ethinylestradiol (ovconso
 Decreases LH/ FSH from pituitary (decreases gonadotropin release hormone)
 Improves coagulation/ alters microvasculature
 Improves endothelium
4) Regulate dental care

14.  Russian modality
 Aminocapronic acid (Etamsylate)
 Triphosphate and magnesium preparation

15. Avoid drugs that decrease platelet function, or reduce coagulation
1)aspirin/NSAID
2)Heparin
3)Warfarin
4)Ticlopidine/clopidogrel
5)GPIIb/IIIa antagonist (abciximab)
6)streptokinase, urokinase, tissue plasminogen activator TPA
7)Volume expanders like dextran
8)dipyridamole