Glanzmann Thrombasthenia

GT Glanzmann Thrombasthenia GTP Guanosine triphosphate GTP-y-S Guanarine 5 0-(3-thiotriphosphate)... 

P3 pS integrin Osteopetrosis developing in adult animals Glanzmann s thrombasthenia... 

Glanzmann s thrombasthenia Autosomal recessive bleeding disorder absence, reduction, or dysfunction of GPIIb/IIIa complex... 

Defects of platelet aggregation—these causing (a) Glanzmann s thrombasthenia and (b) congenital anbrogenemia. 

Hodivala-Dilke KM, McHugh KP, Tsakiris DA et al. (1999) 3 3-integrin-deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival. J Clin Invest 103 229-238... 

Bleeding disorder similar to Glanzmann thrombasthenia in man platelets failed to bind fibrinogen, to aggregate and to retract a fibrinogen clot a-granules do not contain fibrinogen (Tronik-Le Roux et al. 2000). 

Viable, fertile, increased fetal mortality features of Glanzmann thrombasthenia in man, e.g. defective platelet aggregation, clot retraction, spontaneous bleeding, prolonged bleeding times dysfunctional osteoclasts, development of osteosclerosis with age (Hodivala-Dilke et al. 1999 McHugh et al. 2000). 

Hagen I, Nurden A, Bjenum OJ, et al. Immunochemical evidence for protein alMioimalities in platelets from patients with Glanzmann s thrombasthenia and Bernard Soulier Syndrome. J Clin Invest 1980 65 722-731. 

Type I Glanzmann s thrombasthenia has been described in a female Great Pyrenees (Boudreaux et al. 1996a). Platelets have minimal aggregation in resporrse to ADP, collagen, thrombin, and PAF, and clot retraction is severely impaired. Surface expression of glycoprotein Ilbllla is markedly reduced. Therefore, this disorder closely resembles human type I Glanzmann s thrombasthenia. 

Fig.2. Glanzmaim thrombasthenia mutations within the GPma sequence including the MIDAS-like motif. The amino terminal sequence of GPIIIa from residues 110-289 showing the residues (in bold) that form the MIDAS-like motif . The Glanzmann thomba enia mutations are shown under the sequence and are listed by the patient designations as represented in Table 2.

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