Aims of the present study were to carry out a systematic evaluation of the prevalence of alterations of liver enzymes in a large, well-characterized MYH9-RD population, to compare it with the prevalence observed in a large population survey performed in central eastern Sardinia [16] and in two populations of patients with thrombocytopenias not related to MYH9 mutations studied during the same period at the authors' Centers, and to assess the evolution of the liver test alterations in terms of potential organ damage. The gene discussed is MYH9; the disease is Thrombocytopenia.