Beta Thalassemia

by Sylvester
Definition: Thalassemia is inherited
disorders characterized reduced or absent
amounts of hemoglobin, the oxygen-carrying
protein inside the red blood cells.

Two Basic Groups of Thalassemia

Disorder
Alpha Thalassemia

Beta Thalassemia: A person with this

disorder has two mutated genes

There are 3 types of Beta

Thalassemia

Thalassemia Minor

Thalassemia Intermediate.
Thalassemia Major or Cooley's Anemia

Thalassemias
In the case of beta thalassemias, in
contrast to alpha -thalassemias, the
most frequently encountered molecular
abnormalities are point mutations and
short insertions or deletions limited to a
few nucleotides

Two situations have clearly to be

distinguished:
In beta + thalassemias, the mutated
gene encodes for a small amount of
normal mRNA and, thus, a low amount
of

chain is still synthesized. The quantity of

globin chain, which is made, varies largely
from one molecular defect to another, this
chain may be structurally normal or
abnormal
In beta 0 thalassemias , the gene is
unable to encode for any functional mRNA
and therefore there is no beta chain
synthesize

Beta Thalasemia
It is caused by a change in the gene for the beta globin
component of hemoglobin
It can cause variable anemia that can range from
moderate to severe.

Beta thalassemia trait is seen most commonly in people

with the following ancestry: Mediterranean (including
North African, and particularly Italian and Greek), Middle
Eastern, Indian, African, Chinese, and Southeast Asian
(including Vietnamese, Laotian, Thai, Singaporean,
Filipino, Cambodian, Malaysian, Burmese, and
Indonesian

Symptoms of Beta Thalassemia

It is characterize by severe anemia that
can begin months after birth
Paleness
Delays in growth and development
Bone marrow expansion.
Untreated Beta Thalassemia major can
lead to child death due to heart failure.

Alpha and Beta Thalassemias

The thalassemias are, therefore,
considered quantitative hemoglobin
diseases.
Because all types of thalassemia are
caused by changes in either the alpha- or
beta-globin gene. These changes cause
little or no globin to be produced.

Treatment of Beta Thalassemia

Regular blood transfusion helps prevent
severe anemia and allows for more normal
growth and development

There are various medications that target

the production of red blood cells (i.e.
erythropoeitin)

References

First Known Heart Attack Associated With Beta- thalassemia Major

Reported." Heart Disease Weekly February 22, 2004: 10.

Bowden, Vicky R., Susan B. Dickey, and Cindy Smith Greenberg. Children
and Their Families: The continuum of care . Philadelphia: W.B. Saunders
Company, 1998.

"Thalassemias." In Principles and Practice of Medical Genetics , Volume 2,

edited by Alan E.H. Emery, MD, PhD, and David L. Rimoin, MD, PhD. New
York: Churchill Livingstone, 1983.

Thompson, M.W., R. R. McInnus, and H. F. Willard. Thompson and

Thompson Genetics in Medicine , Fifth Edition. Philadelphia: W.B. Saunders
Company, 1991.

Olivieri, N. F. "The Beta Thalassemias." The New England Journal of

Medicine 341 (1999): 99-109.