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May-Hegglin anomoly - 1.

May-Hegglin anomoly - 1.
#00003564
Author: John Lazarchick; Ginell R Post;
Category: Platelet and Megakaryocyte Disorders > Thrombocytopenia > Decreased Platelet Production
Published Date: 10/01/2008

The patient is a 5-year-old male who was being evaluated for thrombocytopenia. A CBC included a hemoglobin of 12g/dl, a WBC of 10.3k/ul with a normal differential and a platelet count of 87,000/ul. The smear shows several large platelets, one of which approximates the size of the surrounding RBCs. Of equal note is the presence of blue Dohle body-like inclusions in the cytoplasm of the PMNs. A diagnosis of May-Hegglin anomaly was made. This is an autosomal dominant disorder resulting in thrombocytopenia with giant platelets, with Dohle body-like inclusions most evident in the neutrophils but also seen in monocytes and eosinophils. The defect results from mutation in the MHY9 gene on chromosome 22.