May Hegglin Anomaly
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report May Hegglin Anomaly is not the name you expected.
May-Hegglin Anomaly is a rare, inherited, blood platelet disorder characterized by abnormally large and misshapen platelets (giant platelets) and defects of the white blood cells known as leukocytes. The defect of the white blood cells consists of the presence of very small (2-5 micrometers) rods, known as Dohle bodies, in the fluid portion of the cell (cytoplasm). Some people with this disorder may have no symptoms while others may have various bleeding abnormalities. In mild cases, treatment for May-Hegglin Anomaly is not usually necessary. In more severe cases, transfusions of blood platelets may be necessary.
In the past couple of years, it has become clear to physicians studying this disorder that May-Hegglin Anomaly is one of a family of five autosomal dominant, giant platelet disorders, each of which involves slight variants (alleles) of the same gene in the same location. The other giant platelet disorders related to May-Hegglin Anomaly are Sebastian Syndrome, Fechtner Syndrome, Epstein Syndrome, and the Alport-like Syndrome with macrothrombocytopenia. Advances in the understanding of one of these syndromes may help in understanding the others.
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Last Updated: 2/25/2008
Copyright 2003 National Organization for Rare Disorders, Inc.
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