ITGA2B and Macrothrombocytopenia: In this report, we demonstrate three novel αIIbβ3 mutations associated with congenital macrothrombocytopenia: two mutations, ITGA2B p.Gly991Cys and ITGA2B p.Phe993del, in highly conserved Gly-Phe-Phe-Lys-Arg sequence in juxtamembrane region of αIIb, and one mutation in the donor site of intron 13 of ITGB3, c.2134+1G>A, which was at the same position reported by Gresele et al. (2009) (c.2134+1G>C), leading to p.(Asp621_Glu660del) in β3.