The May-Hegglin Anomaly and Fechtner Syndrome feature large platelet and Dohle bodies in leukocytes. These are 2 of the conditions in the MYH9-related disease spectrum (MYH9-RD).
Inheritance of May-Hegglin anomaly: autosomal dominant
Gene affected: MYH9 (non-muscle heavy chain 9 myosin) on 22q11.2
Features of May-Hegglin anomaly:
(1) large platelets (macrothrombocytes) with reduced granules
(3) normal platelet and coagulation function
(4) usually no bleeding disorder
(5) cytoplasmic Dohle bodies (spindle-shaped inclusions) in leukocytes (neutrophils and others) consisting of nonmuscle myosin heavy chain A
(6) presence of the same findings in family members (parents or siblings)
Features of the Fechtner Syndrome:
(1) May-Hegglin anomaly
(4) sensorineural deafness
Transient features of the May-Hegglin anomaly can be seen during sepsis and after chemotherapy.
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Specialty: Genetics, Hematology Oncology