Catalog

May-Hegglin thrombocytopenia

No MMS code

Link to WHO Definition

May-Hegglin thrombocytopenia – http://id.who.int/icd/entity/2062728051

May-Hegglin anomaly is one of the MYH9 syndromes (a group that also includes three other allelic variants with similar phenotypic expression: Sebastian, Fechtner and Epstein syndrome), which are characterised by a macrothrombocytopenia that is usually severe but paradoxically results in few if any symptoms. Macrothrombocytopenia is defined by the presence of giant platelets, with a diameter equal or superior to the diameter of a red cell. May-Hegglin anomaly, as well as Sebastian syndrome, is a purely haematological form of MYH9 syndrome.