Three novel mutations in the glycoprotein IIb gene in a patient with type II Glanzmann thrombasthenia
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چکیده
منابع مشابه
Glanzmann thrombasthenia in a compound heterozygote for the α IIb gene . A novel missense
Glanzmann thrombasthenia is an autosomal recessive bleeding disorder characterized by a life-long hemorrhagic tendency and absent or severely reduced platelet aggregation in response to agonists. The thrombasthenic phenotype is associated with quantitative or qualitative abnormalities in the platelet fibrinogen receptor, the αIIbβ3 integrin or glycoprotein (GP) IIb-IIIa, which can also serve as...
متن کاملPatients With Glanzmann Thrombasthenia Lacking Platelet Glycoprotein
Background—Platelets have been suggested to play a role in the early development of atherosclerosis. As one test of this hypothesis, we assessed whether patients with Glanzmann thrombasthenia who lack platelet glycoprotein IIb 3 (GPIIb/IIIa) complexes or both IIb 3 and the more ubiquitous v 3 cell membrane complexes are protected from development of atherosclerosis. Methods and Results—Seven pa...
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Glanzmann thrombasthenia is an inherited bleeding disorder due to a functional reduction or absence of platelet GPIIb/IIIa (alphaIIbbeta3) integrin receptors. Based on a prolonged bleeding time and absence of platelet aggregation in response to physiologic agonists, a 55-year-old white man was diagnosed as having Glanzmann thrombasthenia. The patient's platelet fibrinogen level was approximatel...
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Glanzmann thrombasthenia is an autosomal recessive disorder of the platelet glycoproteins (GP) IIb and IIIa. These glycoproteins normally serve as receptors for other adhesive glycoproteins, including fibrinogen, von Willebrand factor, and fibronectin. Most patients affected by Glanzmann thrombasthenia have low levels of GPIIb and GPIIIa; however, the separate mechanisms responsible for the def...
متن کاملAnaesthetic Management with Thromboelastography in a Patient with Glanzmann Thrombasthenia.
Glanzmann thrombastenia (GT) is a rare disease of an autosomal recessive inheritance characterized with fatal bleeding tendency. The anaesthesiologist should be cognizant of the risk involved and be prepared with necessary measures. In this paper, we present a GT case of a 9-year-old male with hypospadias, which was successfully repaired after platelet transfusions according to the thromboelast...
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ژورنال
عنوان ژورنال: Haematologica
سال: 2007
ISSN: 0390-6078,1592-8721
DOI: 10.3324/haematol.10847