May Hegglin Anomaly

Important
It is possible that the main title of the report May Hegglin Anomaly is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

Dohle's Bodies-Myelopathy
Hegglin's Disease
Leukocytic Inclusions with Platelet Abnormality
MHA
Dohle Leukocyte Inclusions with Giant Platelets
Macrothrombocytopenia with Leukocyte Inclusions

Disorder Subdivisions

None

General Discussion

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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Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda, MD 20824-0105
Tel: (301)592-8573
Fax: (301)251-1223
Email: nhlbiinfo@rover.nhlbi.nih.gov

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 2/25/2008
Copyright 1986, 1990, 1994, 2003 National Organization for Rare Disorders, Inc.

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