Macrothrombocytopenia With Döhle Body-Like Granulocyte Inclusions: A Case Report of May-Hegglin Anomaly in a 33-Year-Old White Woman With an Update on the Molecular Findings of MYH9-Related Disease

A 33-year-old white woman arrived at the hospital to undergo a hysterectomy due to uterine fibroids. Blood smear review identified macrothrombocytopenia and Dohle body–like cytoplasmic leukocyte inclusions. Genetic testing identified a mutation in exon 39 of the myosin heavy chain gene ( MHY9 ; OMIM 160775), which confirmed the diagnosis of May-Hegglin anomaly. May-Hegglin anomaly is one of a spectrum of MYH9 disorders that also includes Sebastian, Epstein, and Fechtner syndromes. Herein, we describe the clinical and laboratory presentation of a patient with May-Hegglin anomaly and provide an update on the molecular findings and a discussion of the genotypic-phenotypic correlations in this potentially underdiagnosed disorder. * Abbreviations : G1 P0 : 1 pregnancy but no live births CT : computed tomography CBC : complete blood count WBC : white blood cell RBC : red blood cell eGFR : estimated glomerular filtration rate PT : prothrombin time PTT : partial thromboplastin time ADP : adenosine diphosphate PCR : polymerase chain reaction MHA : May-Hegglin anomaly SS : Sebastian syndrome FS : Fechtner syndrome ES : Epstein syndrome NMM-IIA : nonmuscular myosin IIA mRNA : messenger RNA E1841K : glutamate-to-lysine change at amino acid 1841 MYH9-RD : MYH9-related disorders