In contrast, macrothrombocytopenia, even with giant platelets, is typical of alterations in the GP1BA, GP1B, GP9, MYH9, SRC, and SLFN14 genes, and in the majority of ITs from variants in genes that encode cytoskeletal proteins or participate in glycosylation [1,2,4]. The gene discussed is MYH9; the disease is Macrothrombocytopenia.