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$Title{Anemia, Hereditary Non-Spherocytic Hemolytic}
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Copyright (C) 1986, 1987, 1990 National Organization for Rare Disorders,
Inc.

82:
Anemia, Hereditary Non-Spherocytic Hemolytic

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 of this report.


Hereditary Non-Spherocytic Hemolytic Anemia is thought to be a
heterogenous group of disorders characterized by intrinsic red blood cell
defects.  Hereditary enzyme defects such as glucose-6-phosphate dehydrogenase
deficiency (G-6-PD), pyruvate kinase deficiency or Favism may produce this
disorder.  The spheroid shaped red cells known as spherocytes which are found
in the blood of patients with Hereditary Spherocytic Hemolytic Anemia are not
present in this disorder.

Symptoms

The symptoms of Hereditary Non-Spherocytic Hemolytic Anemia include moderate
anemia, intermittent jaundice and occasionally an enlarged spleen.  The onset
is usually during childhood.  However, some patients may be jaundiced at
birth.  A non-spherocytic hemolytic anemia may be suspected at this time if
small granules known as Heinz bodies are present in the red blood cells.

Hemolysis may be a reaction to stress, during which time the patient may
experience fever, jaundice, or possibly an enlarged spleen or liver.  A
hemolytic crisis may be precipitated by the use of certain drugs such as
phenacetin, some sulfonamides, or antimalarials.

Causes

Hereditary Non-Spherocytic Hemolytic Anemia is probably a group of related
disorders rather than a single entity.  One cause is a deficiency of G-6-PD
transmitted as a partially dominant trait in the sex chromosome.

Therapies:  Standard

Blood transfusions may occasionally be a necessary treatment for this defect.
While splenectomy is beneficial in the treatment of hereditary hemolytic
anemias of the spherocytic type, it is of no benefit in the non-spherocytic
kind of hereditary hemolytic anemias.  Iron chelation therapy (e.g.,
desferoxamine) may be necessary if a chronic blood transfusion program
becomes necessary.

Therapies:  Investigational

Studies are being conducted in the use of Sandoglobulin as a treatment
for Hereditary Non-Spherocytic Hemolytic Anemia.  Further investigation is
needed to determine it's safety and effectiveness.

This disease entry is based upon medical information available through
March 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 Hereditary Non-Spherocytic Hemolytic Anemia, please
contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     (203) 746-6518

     National Heart, Lung and Blood Institute
     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. 1112.

CECIL TEXTBOOK OF MEDICINE, 18th ed.:  James B. Wyngaarden, and Lloyd H.
Smith, Jr., Eds.:  W. B. Saunders Co., 1988.  P. 880.