A Case Report of Thrombocytopenia Caused by a May-Hegglin Anomaly in a Young Saudi Female.

Low platelet count is rarely caused by inherited thrombocytopenia. May-Hegglin anomaly is an uncommon condition that falls under the umbrella of familial thrombocytopenia. The condition is under-reported in Saudi Arabia; therefore, we report the current case. This is a 24-year-old Saudi lady, presented to the emergency room with vaginal bleeding. No bleeding occurred at any other sites. She has a positive family history of thrombocytopenia among her father and 2 of her siblings. Her platelet count was 16 × 103/µL with normal other blood count as well as renal and liver panels. She was admitted to the regular bed for investigation as sever thrombocytopenia with suspicion of either familial or immune thrombocytopenia. Further studies showed normal hemostatic, virology, and connective tissue disease markers. Peripheral blood film showed low platelet distribution with occasional large/giant platelets and basophilic inclusion bodies in some neutrophils (Dohle body-like). A picture suggestive of May-Hegglin related thrombocytopenia that was confirmed by the presence of a positive myosin heavy chain 9 (MYH9) gene mutation. In conclusion, there are many difficulties in diagnosing and treating May-Hegglin disorders in females of reproductive age. More research and guidelines are needed to manage inherited thrombocytopenia before and throughout pregnancy.