May-Hegglin anomaly is a rare inherited disorder of blood platelets. It is marked by abnormally large, misshapen giant platelets and by small rod-shaped inclusions called Dohle bodies in the cytoplasm of white blood cells. Some people have no symptoms at all, while others purple skin spots, nosebleeds, bleeding after dental work or, rarely, bleeding within the brain. Mild cases usually need no treatment, and severe bleeding may call for platelet transfusions. The condition is inherited as an autosomal dominant trait caused by changes in the MYH9 gene on chromosome 22. It is now understood to belong to a family of closely related giant platelet disorders, including Sebastian, Fechtner and Epstein syndromes, and it affects males and females equally, with reports more common among people of Greek or Italian descent.
Facts
Classification
Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Connections
Treated By
Source May Hegglin Anomaly (NORD Rare Disease Database)
Sources
1. May Hegglin Anomaly (NORD Rare Disease Database)
Causes
May-Hegglin Anomaly is inherited as an autosomal dominant genetic trait.
Disease Overview
May-Hegglin Anomaly is a rare, inherited, blood platelet disorder
Treated By: Platelet Transfusion, Standard Therapies
In severe rare cases, people with May-Hegglin Anomaly may require transfusions of platelets.
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