Eight of the 21 type 2B patients lacking in large VWF multimers had low platelet counts under basal conditions, the lowest (51.0+/-20.1 x 103/μL) being identified in the three patients carrying the p.V1316M mutation, who also had giant platelets and persistent thrombocytopenia. The gene discussed is VWF; the disease is Thrombocytopenia.