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May Hegglin’s anomaly, as it is also known, is a rare genetic disorder of the blood platelets that causes them to be abnormally large. Also, this anomaly causes abnormalities in the white blood cells known as leukocytes.
It is named for Robert Hegglin and Richard May.[1][2][3]
This disorder was first described by Richard May, a German physician, in 1909, and was subsequently described by a Swiss physician, Robert Hegglin, in 1945.
An association with MYH9 has been described.[4]
The pathogenesis of the disorder had been unknown until recently, when mutations in the gene encoding for nonmuscle myosin heavy chain IIA (MYH9) were identified. Unique cytoplasmic inclusion bodies are aggregates of nonmuscle myosin heavy chain IIA, and are only present in granulocytes. It is not yet known why inclusion bodies are not present in platelets, monocytes, and lymphocytes, or how giant platelets are formed. Interestingly, MYH9 is also found to be responsible for several related disorders with macrothrombocytopenia and leukocytes inclusion, including Sebastian, Fechtner, and Epstein syndromes, which feature deafness, nephritis, and/or cataract[5].
In the leukocytes, the presence of very small rods (around 3 micrometers), or Dohle bodies can be seen in the cytoplasm.
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