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$Unique_ID{BRK04263}
$Pretitle{}
$Title{Thalassemia Minor}
$Subject{Thalassemia Minor Beta Thalassemia Minor Hereditary Leptocytosis
Heterozygous Beta Thalassemia Thalassemia Sideroblastic Anemia Sickle Cell
Disease }
$Volume{}
$Log{}

Copyright (C) 1986, 1989, 1992, 1993 National Organization for Rare
Disorders, Inc.

72:
Thalassemia Minor

** IMPORTANT **
It is possible that the main title of the article (Thalassemia Minor) is
not the name you expected.  Please check the SYNONYMS listing to find the
alternate name and disorder subdivisions covered by this article.

Synonyms

     Beta Thalassemia Minor
     Hereditary Leptocytosis
     Heterozygous Beta Thalassemia
     Thalassemia

Information on the following diseases can be found in the Related
Disorders section of this report:

     Sideroblastic Anemia
     Sickle Cell 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 of this report.


Thalassemia Minor is a rare blood disorder characterized by a moderately
low level of hemoglobin in red blood cells (anemia).  This disorder is
inherited.  People with Thalassemia Minor have one of a pair (heterozygous)
of the thalassemia gene.  If a person has two copies of the gene, they will
have Thalassemia Major which is a more serious disease.

Symptoms

The only symptom of Thalassemia Minor may be persistent fatigue.  However, if
the levels of hemoglobin in the red blood cells (which carry oxygen) are very
low (anemia), then the individual may become pale and have slight enlargement
of the spleen (splenomegaly).  Some people with Thalassemia Minor may also
experience pain in the upper left side of the abdomen.

The symptoms of Thalassemia Minor may become worse when the patient is
under stress, suffers infections or malnutrition, or is pregnant.  The life
span of people with this disorder is normal.

Causes

Thalassemia Minor is inherited as an autosomal recessive genetic trait.
Human traits, including the classic genetic diseases, are the product of the
interaction of two genes, one received from the father and one from the
mother.  In recessive disorders, the condition does not appear unless a
person inherits the same defective gene for the same trait from each parent.
If one receives one normal gene and one gene for the disease, the person will
be a carrier for the disease, but usually will not show symptoms.  The risk
of transmitting the disease to the children of a couple, both of whom are
carriers for a recessive disorder, is twenty-five percent.  Fifty percent of
their children will be carriers, but healthy as described above.  Twenty-five
percent of their children will receive both normal genes, one from each
parent, and will be genetically normal.

In Thalassemia Minor a person inherits only one of the Thalassemia genes,
so they get a less serious form of Thalassemia than those who inherit both
genes (Thalassemia Major).

Affected Population

Thalassemia Minor is a rare inherited blood disorder that affects males and
females in equal numbers.  This disorder most commonly occurs in people of
Mediterranean or southern Chinese descent.  Thalassemia Minor occurs in as
many as 1 in 5 people of certain Italian populations.

Related Disorders

Symptoms of the following disorders can be similar to those of Thalassemia
Minor.  Comparisons may be useful for a differential diagnosis:

Sideroblastic Anemia is a rare blood disorder characterized by low levels
of hemoglobin due to the ineffective use of iron.  The symptoms of this
disorder typically include fatigue, weakness, and difficulty breathing.
Physical exertion may also cause chest pains.  This disorder is diagnosed by
a blood test that reveals abnormal red blood cells known as sideroblasts.
(For more information, choose "Sideroblastic Anemia" as your search term in
the Rare Disease Database.)

Sickle Cell Disease is a group of inherited blood diseases characterized
by the presence of abnormal crescent-shaped red blood cells and low levels of
hemoglobin (anemia).  Symptoms may include fatigue, respiratory infections,
irritability, enlarged spleen, and/or sudden acute attacks of pain
particularly in the chest.  Other symptoms may include an enlargement of the
liver, and/or painful inflammation of the fingers and/or toes.  (For more
information, choose "Sickle Cell" as your search term in the Rare Disease
Database.)

There are many other varieties of Anemias that have symptoms that are
similar to those of Thalassemia Minor.  Generally, a blood test is required
to distinguish one form of anemia from the other.  (For more information,
choose "Anemia" as your search term in the Rare Disease Database.)

Therapies:  Standard

Treatment for Thalassemia Minor is generally not necessary.  This disorder
does not respond to iron therapy.  Prolonged use of iron may lead to
excessive iron storage in body tissues.  Pregnant women with Thalassemia
Minor may require blood transfusions to maintain appropriate hemoglobin
levels.

Genetic counseling will be of benefit for people with Thalassemia Minor
and their families.

Therapies:  Investigational

The orphan drug sodium phenylbutyrate is being studied for the treatment of
various blood disorders including Thalassemia Minor.  For more information on
this drug, patients may have their physicians contact:

     Dr. Saul Brusilow
     John Hopkins Hospital,
     600 Wolfe Street
     Baltimore, MD 21205
     [phone]

This disease entry is based upon medical information available through
May 1993.  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 Thalassemia Minor, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     National Association for Sickle Cell Disease Inc.
     3460 Wilshire Blvd., Suite 1012
     Los Angeles, CA  96010
     [phone]
     [phone]

     Cooley's Anemia Foundation, Inc.
     105 East 22nd St.
     New York, NY  10010
     [phone]
     [phone] (New York state)
     [phone] (all other states)

     NIH/National Heart, Lung and Blood Institute (NHBLI)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

For Genetic Information and Genetic Counseling Referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Ave.
     White Plains, NY 10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     800-336-GENE
     301-652-5553

References

MENDELIAN INHERITANCE IN MAN, 10th Ed.:  Victor A. McKusick, Editor:  Johns
Hopkins University Press, 1992.  Pp. 496.

CECIL TEXTBOOK OF MEDICINE, 19th Ed.:  James B. Wyngaarden, and Lloyd H.
Smith, Jr., Editors; W.B. Saunders Co., 1990.  P. 883.

THE MERCK MANUAL, 16th Ed.:  Robert Berkow Ed.; Merck Research
Laboratories, 1992.  Pp. 1172.

HEMATOLOGY, 4th Ed,:  William J. Williams, et al,; Editors; McGraw-Hill,
Inc., 1990.  Pp. 492-493, 511.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp. 1659-1661.

NELSON TEXTBOOK OF PEDIATRICS, 14th Ed.; Richard E. Behrman et al; W.B.
Saunders Co., 1992.  Pp. 1516-1516.