Platelets are found in blood and they perform the functions of hemostasis whenever there is a damage in subendothelial happens platelets actives and aggregate to form a platelet plug in order to maintain hemostasis Glanzmann’s thrombocytopenia is a disease discovered by Glanzmann’s in 1918. It’s a genetic platelet surface receptor defects of GPIIb / IIIa. Either qualitative or quantitative. It ...

The patient, a 58-year-old woman, had suffered from excessive bleeding since early childhood. The coagulation studies were diagnostic of Glanzmann's thrombasthenia with diminished platelet aggregation in response to ristocetin (table). She was admitted to hospital because of intractable haematuria for which no cause could be established. There were no signs of urinary tract infection or stones....

Expression of a Platelet-specific alloantigen (Pl(A1)) was studied in five unrelated patients with Glanzmann's thrombasthenia using immunologic techniques based on release of (51)Cr from tagged platelets by Pl(A1)-specific antibody. Less than 1% of the normal quantity of Pl(A1) could be detected on platelets of patients 1, 2, and 3; platelets from patients 4 and 5 contained 22 and 12% of normal...

The genetic basis for Glanzmann’s thrombasthenia (GT) was elucidated on a compound heterozygote with glycoprotein (GP)llb gene: an opal mutation at the end of exon 17 (CGA -+ IGA) results in only a trace amount of GPllb mRNA, and a splicing mutation at the acceptor site of exon 26 (SAG + GAG) causes an in-frame, exon skipping process from exon 25 t o 27. This aberrant transcript encodes a singl...

Glanzmann thrombasthenia is an autosomal recessive bleeding disorder characterized by a decrease or absence of functional platelet glycoprotein (GP) IIb-IIIa (alpha IIb beta 3) integrin receptors. Although thrombasthenia is a rare disorder, its occurrence is increased in some regions of the world where intracommunity marriage and consanguinity are commonplace, resulting in increased expression ...