May-Hegglin thrombocytopenia (Q96601)
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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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2062728051 |
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| English | May-Hegglin thrombocytopenia |
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. |
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CID11:ID_2062728051
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dki-india-ID_2062728051
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