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

(2) thrombocytopenia

(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

(2) nephritis

(3) cataracts

(4) sensorineural deafness


Transient features of the May-Hegglin anomaly can be seen during sepsis and after chemotherapy.


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