Which are the symptoms of May Hegglin Anomaly?

Symptoms of May Hegglin Anomaly

May Hegglin Anomaly (MHA) is a rare genetic disorder that affects the blood cells, specifically the platelets. It is characterized by a triad of symptoms including thrombocytopenia, giant platelets, and Döhle-like inclusions in white blood cells.

Thrombocytopenia: One of the primary symptoms of MHA is a low platelet count, known as thrombocytopenia. Platelets are responsible for blood clotting, and a decreased number of platelets can lead to easy bruising, prolonged bleeding, and excessive bleeding following injuries or surgeries.

Giant Platelets: Another characteristic feature of MHA is the presence of abnormally large platelets in the blood. These giant platelets are often seen on a blood smear and can be indicative of the disorder. The size and shape of platelets play a crucial role in their ability to form blood clots, and the presence of giant platelets can impair this function.

Döhle-like Inclusions: MHA is also associated with the presence of Döhle-like inclusions in white blood cells, particularly neutrophils. These inclusions are small, pale blue-gray structures that can be observed under a microscope. While their exact role in MHA is not fully understood, their presence is considered a diagnostic feature of the disorder.

Other symptoms that may be observed in individuals with MHA include:

• Easy bruising or petechiae (small red or purple spots on the skin)


• Nosebleeds or bleeding gums


• Heavy or prolonged menstrual periods in females


• Excessive bleeding after dental procedures or surgeries


• Occasional mild to moderate bleeding in the gastrointestinal or urinary tract


• Recurrent infections

It is important to note that the severity and specific symptoms of MHA can vary among affected individuals. Some individuals may experience mild symptoms and have a relatively normal life, while others may have more severe symptoms and require medical intervention.

Diagnosis of MHA is typically made through a combination of clinical evaluation, blood tests, and microscopic examination of blood smears. Genetic testing may also be performed to confirm the presence of mutations in the MYH9 gene, which is associated with MHA.

Treatment for MHA focuses on managing the symptoms and preventing complications related to thrombocytopenia. This may involve regular monitoring of platelet counts, avoiding activities that may increase the risk of bleeding, and in some cases, platelet transfusions or medications to stimulate platelet production.

In conclusion, May Hegglin Anomaly is a rare genetic disorder characterized by thrombocytopenia, giant platelets, and Döhle-like inclusions in white blood cells. The symptoms can vary in severity, but commonly include easy bruising, bleeding abnormalities, and recurrent infections. Early diagnosis and appropriate management can help individuals with MHA lead a relatively normal life.