Pregnancy in May-Hegglin Anomaly: Diagnostic Challenges and Management Considerations.

May-Hegglin anomaly (MHA) is a rare autosomal dominant genetic disorder caused by mutations in the MYH9 gene, leading to the presence of Döhle-like inclusions in neutrophils, macrothrombocytes, and thrombocytopenia. This report presents a unique case of a 33-year-old pregnant woman diagnosed with MHA and discusses the diagnostic challenges and management strategies. A 33-year-old pregnant woman, 17 weeks into her pregnancy, presented with a history of persistent thrombocytopenia. She had previously been diagnosed with immune thrombocytopenia (ITP) and treated with steroids, intravenous immunoglobulin (IVIG), and thrombopoietin receptor agonists (TPO-RA). Her platelet counts had been between 35,000 and 50,000/μL. Upon referral to the hematology clinic, her platelet count was critically low at 15,000/μL, but the mean platelet volume (MPV) remained within normal limits. Despite her low platelet count, her coagulation profile was normal, and physical examination showed no pathological findings. The patient's blood smear revealed giant platelets and Döhle-like inclusions in the granulocytes. Genetic testing confirmed a heterozygous mutation in the MYH9 gene, leading to the diagnosis of MHA. Due to the risks associated with thrombocytopenia in pregnancy, her prenatal care included routine platelet monitoring and a normal bleeding time assessment. The patient underwent a cesarean delivery under general anesthesia, which resulted in the birth of a healthy baby boy. The case highlights the importance of accurate diagnosis and careful monitoring in managing pregnancy in patients with MHA. A multidisciplinary approach involving obstetricians and hematologists is crucial for optimizing maternal and neonatal outcomes.