Glanzmann's Thrombasthenia

Gene Mutation Associated with Bleeding Disorder

Published in Blood Weekly, February 20th, 1995

Researchers reported on type I Glanzmann's thrombasthenia in an Iranian-Jewish family that is associated with deletion-insertion and alternative splicing in the glycoprotein IIb gene.

Glanzmann's thrombasthenia is a bleeding disorder which is characterized by a decrease or an absence of the functional platelet membrane glycoprotein (GP) complex, GPIIb/IIIa ((alpha)_IIb (beta)₃ ).

Hava Peretz, Chaim Sheba Medical Center, Tel-Hashomer, Israel, and colleagues described the new deletion-insertion mutation in the GPIIb gene responsible for causing type I Glanzmann's thrombasthenia in two siblings of a blood-related Iranian-Jewish...

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Source: Blood Weekly (1995-02-20)

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