May Hegglin Anomaly

May Hegglin Anomaly

National Organization for Rare Disorders, Inc.

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.

Symptoms

Some people with May-Hegglin Anomaly may have symptoms at birth while others may have no symptoms throughout their lifetime. Symptoms may include red or purple colored spots on the skin (purpura), nose bleeds (epitaxis), excessive bleeding from the mouth during dental work, headaches, and/or muscle weakness on one side of the body due to bleeding within the brain (intracranial bleeding).



Excessive bleeding may occur in some people with May-Hegglin Anomaly when steroid drugs used to treat another disorder are discontinued.

Causes

May-Hegglin Anomaly is inherited as an autosomal dominant genetic trait. The gene involved has been mapped to Gene Map Locus 22q11.2, and the protein generated by the gene is known as MYH9.



Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.

Affected Populations

May-Hegglin Anomaly is a rare blood platelet disorder that affects males and females in equal numbers. It occurs more often in people of Greek or Italian descent than among others. As of about 10 years ago, only about 170 cases were reported in the literature.

Standard Therapies

The diagnosis of May-Hegglin Anomaly is made by specialized blood tests that reveal giant, oddly shaped platelets and characteristic cellular "inclusions" in certain white blood cells (leukocytes). There also might be fewer platelets than normal (mild thrombocytopenia). In severe rare cases, people with May-Hegglin Anomaly may require transfusions of platelets. People with Chediak-Higashi Syndrome, a form of Albinism, have cellular inclusions that are very similar to those of May-Hegglin Anomaly.



Pregnant women with May-Hegglin Anomaly may experience episodes of bleeding. Therefore, expectant mothers and their unborn children should be monitored for abnormal bleeding and/or hemorrhages.



May-Hegglin Anomaly generally does not require therapy in mild cases. Genetic counseling may be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.

Investigational Therapies

Research on genetic disorders and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic and familial disorders in the future.



Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:403-04.



Beers MH, Berkow R., eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:927.



Hoffman R, Benz Jr EJ, Shattil SJ et al. Eds. Hematology: Basic Principles and Practice. 2nd ed. Churchill-Livingstone, Inc. New York, NY; 1995:1875.



JOURNAL ARTICLES

Balduini CL, Iolascon A, Savoia A. Inherited thrombocytopenias: from genes to therapy. Haematologica. 2002;87:860-80.



Seri M, Savino M, Bordo D, et al. Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. Human Genet. 2002;110:182-86.



Fayyad AM, Brummitt DR, Barker HF, et al. May-hegglin anomaly: the role of aspirin in the treatment of this rare platelet disorder in pregnancy. BJOG. 2002;109:223-24.



Kunishima S, Matsushita T, Kojima T, et al. Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. J Hum Genet. 2001;46:722-29.



Chabane H, Galiais Y, Pathier D, et al. Delivery management in a woman with thrombocytopenia of the may-Hegglin anomaly type. Eur J Obstet Gynecol Reprod Biol. 2001;99:124-25.



Heath KE, Campos-Barros A, Toren A, et al. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner. Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet. 2001; 69:1033-45.



Kelley MJ, Jawien W, Ortel TL, et al. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nat Genet. 2000;26:106-08.



Seri M, Cusano R, Gangarossa S, et al. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The may-Hegglin/Fechtner Syndrome Consortium. Nat Genet. 2000;26:103-05.



Martignetti JA, Heath KE, Harris J, et al. The gene for may-Hegglin anomaly localizes to a 1-Mb region of chromosome 22q12.3-13.1. Am J Hum Genet. 2000;66:1449-54.



FROM THE INTERNET

McKusick VA, Ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Entry Number; 155100: Last Edit Date; 4/6/2001.



McKusick VA, Ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Entry Number; 153640: Last Edit Date; 1/17/2001.



McKusick VA, Ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Entry Number; 153650: Last Edit Date; 5/10/2002.



McKusick VA, Ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Entry Number; 605249: Last Edit Date; 8/31/2000.



McKusick VA, Ed.Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Entry Number; 160775: Last Edit Date; 1/16/2003.



Puget Sound Blood Center. Types of Inherited Thrombocytopenia. nd. 3pp.

www.familygenetics.net/disorders/thrombocytopenia-types.htm



Martignetti JA. Five (un)easy pieces: the MYH9-related giant platelet syndromes. 9/2002. 3pp.

www.haematologica.ws/2000_09/897.htm



Shafer FE. May-Hegglin Anomaly. eMedicine. Last Updated: September 14, 2001. 8pp.

www.emedicine.com/ped/topic1383.htm

Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



NIH/National Heart, Lung and Blood Institute

P.O. Box 30105

Bethesda, MD 20892-0105

Tel: (301)592-8573

Fax: (301)251-1223

Email: nhlbiinfo@rover.nhlbi.nih.gov

Internet: http://www.nhlbi.nih.gov/



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, 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.

This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use . How this information was developed to help you make better health decisions.

Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.