Mutations in the MYH9 gene encoding NMHC IIA cause an autosomal-dominant disorder, namely MYH9-RD which has a complex phenotype characterized by macrothrombocytopenia with giant platelets and leukocyte inclusion bodies and syndromic forms combining these hematological features with deafness and/or nephropathy and/or cataracts [45,47–48]. This evidence concerns the gene MYH9 and Macrothrombocytopenia.