FVII defciency, * FVII leve was 20%, ND: Not done, VWD: Von Willebrand disease, VWF: Von Wolebrand factor, BSS: Bernard-Soulier syndrome, GT: Glanzmann thrombasthenia
Presentation and pattern of symptoms in 382 patients with Glanzmann thrombasthenia in Iran.
Use of rFVIIa in 4 children with Glanzmann thrombasthenia.
Surgical resection of a sphenoid wing meningioma in a patient with Glanzmann thrombasthenia.
Molecular study of Glanzmann thrombasthenia
in 3 patients issued from 2 different families.
This report highlights the case of a 3-year-old girl affected by Glanzmann thrombasthenia
, an inherited platelet function disorder (PFD), characterized by abnormalities of glycoprotein complex IIb/IIIa (integrin [[alpha].
Since Glanzmann thrombasthenia
is a disease caused by platelet dysfunction, there is defect in primary clot formation and mucosal bleedings are observed frequently.
It has been used to detect the absence of glycoprotein IIb/IIIa receptors in patients with Glanzmann thrombasthenia
and has been used to study deficiencies of glycoprotein Ia, Ib, IIb, IV, and IX.
describe the defect in each of the following hereditary disorders: Glanzmann thrombasthenia
and Bernard-Soulier syndrome (BSS).
The pathogenesis and molecular defects of many primary thrombocytopathies are well known and relate to defects in structural or functional glycoproteins, such as the abnormal expression of gpIIb/IIIa in Glanzmann thrombasthenia
and gpIb in Bernard-Soulier disease (8994).
Patients with afibrinogenemia or Glanzmann thrombasthenia
(abnormalities of the GP Iib-IIIa receptor) lack both primary and secondary responses to various platelet agonists (27).
Addition of anti-GPIb to blood causes a decrease in availability of platelet receptor GPIb, mimicking Bernard-Soulier syndrome (BSS), whereas anti-GPIIbIIIa treatment causes a decrease in the availability of platelet receptor GPIIbIIIa, mimicking Glanzmann thrombasthenia