May-Hegglin thrombocytopenia (Q96601): Difference between revisions
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Anomalia de May-Hegglin é uma das síndromes MYH9 (um grupo que também inclui outras três variantes alélicas com expressão fenotípica semelhante: síndrome de Sebastian, Fechtner e Epstein), que são caracterizadas por uma macrotrombocitopenia que geralmente é grave mas paradoxalmente resulta em poucos ou nenhum sintoma. Macrotrombocitopenia é definida pela presença de plaquetas gigantes com diâmetro igual ou superior ao diâmetro de uma hemácia. A anomalia de May-Hegglin, assim como a síndrome de Sebastian, é uma forma puramente hematológica da síndrome MYH9. | |||
| description / en | description / en | ||
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. | |||
Revision as of 12:37, 16 August 2026
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. |
