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$Unique_ID{BRK03977}
$Pretitle{}
$Title{May-Hegglin Anomaly}
$Subject{May-Hegglin Anomaly Leukocytic Inclusions Platelet Abnormality
Dohle's Bodies-Myelopathy Hegglin's Disease }
$Volume{}
$Log{}
Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc.
160:
May-Hegglin Anomaly
** IMPORTANT **
It is possible that the main title of the article (May-Hegglin Anomaly)
is not the name you expected. Please check the SYNONYM listing to find the
alternate names and disorder subdivisions covered by this article.
Synonyms
Leukocytic Inclusions with Platelet Abnormality
Dohle's Bodies-Myelopathy
Hegglin's Disease
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only. It should not be used for diagnostic or treatment
purposes. If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section.
The May-Hegglin Anomaly consists of abnormalities of the platelets (blood
elements important in clotting after injuries) and certain leukocytes (white
blood cells). Symptoms may or may not be present. Treatment is not always
necessary, and the prognosis is usually good. This anomaly occurs most often
in Greek or Italian populations.
Symptoms
May-Hegglin Anomaly may be detected at birth although it may remain
asymptomatic. When symptoms do occur, they include purpura (a purplish or
brownish red discoloration of the skin due to subcutaneous bleeding),
nosebleeds, excessive bleeding from the mouth during dental work, headaches,
and muscular weakness on one side of the body due to intracranial bleeding.
Withdrawal of steroid therapy used to treat some other disorder may
precipitate excessive bleeding.
Laboratory investigations reveal giant, oddly shaped platelets and
characteristic inclusions in the polymorphonuclear leukocytes (a certain kind
of white blood cells involved with defense against disease). Platelets may
also be mildly reduced in quantity.
Causes
The May-Hegglin Anomaly is a hereditary condition transmitted by an autosomal
dominant gene. (Human traits including the classic genetic diseases, are the
product of the interaction of two genes for that condition, one received from
the father and one from the mother. In dominant disorders, a single copy of
the disease gene (received from either the mother or father) will be
expressed "dominating" the normal gene and resulting in appearance of the
disease. The risk of transmitting the disorder from affected parent to
offspring is 50% for each pregnancy regardless of the sex of the resulting
child.)
Related Disorders
Other disorders of platelet function include Thrombasthenia, Bernard-Soulier
Syndrome, Chediak-Higashi Syndrome, the Gray Platelet Syndrome, and various
defects of collagen induced platelet aggregation. Platelet disorders are
also associated with congenital conditions such as Wiskott-Aldrich Syndrome,
Down's Syndrome, Thrombocytopenia with Absent Radius Syndrome, and von
Willebrand's Disease.
Affected Population
The May-Hegglin anomaly occurs primarily in families of Italian or Greek
descent.
Therapies: Standard
No therapy is required for May-Hegglin Anomaly.
Therapies: Investigational
This disease entry is based upon medical information available through
January 1990. 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.
Resources
For more information on May-Hegglin Anomaly, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
NIH/National Heart, Lung, and Blood Institute (NHLBI)
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-4236
For information on genetics and genetic counseling referrals, please
contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme
Research Laboratories, 1987. P. 1164.
CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H.
Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 1048.