What Is Thalassemia?
(also known as Mediterranean anemia, or Cooley's
Anemia) is a genetic blood disease. People born
with this disease cannot make normal hemoglobin
(anemia) which is needed to produce healthy red
Who carries Thalassemia?
People of Chinese, South Asian, Middle Eastern,
Mediterranean or African origin.
What is Thalassemia Minor?
People with a thalassemia mutation only in one
gene are known as carriers or are said to have
thalassemia minor. Thalassemia minor results in
no anemia or very slight anemia. People who are
carriers do not require blood transfusion or
iron therapy, unless proven to be iron
What is Thalassemia Major?
Children born with thalassemia major usually
develop the symptons of severe anemia within the
first year of life. Lacking the ability to
produce normal adult hemoglobin, children with
fail to thrive, and
do not grow normally
Prolonged anemia will cause bone deformities and
eventually will lead to death within the first
decade of life. The only treatment to combat
severe anemia is regular blood transfusions.
How can Thalassemia be treated?
Regular blood transfusions allow patients with
thalassemia major to grow normally and be
active. Unfortunately, transfusions result in
deadly accumulation of iron in the hearts and
livers of patients by their teenage years. If
the excess iron is not removed then the patients
may suffer from a premature death due to iron
Nowadays, drugs designed to remove excess iron
(iron chelators) have significantly changed the
prognosis of thalassemia major. Patients can
grow and develop normally, with relatively
normal heart and liver functions. Adult patients
are living into their forties and some have
children of their own.
Despite improved prognosis, many patients find
the nightly 10 hour infusions difficult or
painful and are reluctant to comply with their
doctor's orders. These patients are not free of
risk and may die prematurely due to iron
Current treatments allow thalassemia patients to
live relatively normal lives, however, a cure
remains to be found. The genetic cause of
thalassemia was one of the first genes
discovered in the 1970's, yet 30 years later,
gene therapy still eludes thalassemia patients.
Do you carry Thalassemia?
Many people from the areas of the world where
thalassemia is common carry the gene for it on
one chromosome (that is, they have thalassemia
minor). You may believe that your blood has been
tested for this specific gene but testing for
thalassemia requires a special blood test. To be
tested your doctor must order a blood test
called HEMOGLOBIN ELECTROPHORESIS which can
identify a carrier of thalassemia.
If you, your parents or ancestors are from an
area of the world where thalassemia is common,
PLEASE REQUEST hemoglobin electrophoresis blood
test from your doctor.
It is important to identify yourself as a
possible carrier of thalassemia (thalassemia
minor). A person with thalassemia minor has a
25%(1 in 4) chance of having a baby with
THALASSEMIA MAJOR if his/her mate also has
How do you inherit Thalassemia?
If both parents carry thalassemia minor, their
children may have thalassemia minor, or they may
have completely normal blood, or they may have
thalassemia major. In each pregnancy there is a
one in four (25%) chance that their child will
have normal blood, a two in four (50%) chance
that the child will have thalassemia minor or a
one in four (25%) chance that the child will
have thalassemia major.
How can we prevent Thalassemia?
Please share the information on this website
with others. Show it to your family, friends,
neighbours, coworkers or anyone who has origins
from areas where thalassemia is common. Be sure
to ask your doctor to test you for thalassemia
minor. Increased awareness is the key.
Does a cure exist?
Presently, the only available treatment for iron
overload in thalassemia patients is
pump-infusion therapy. Patients that cannot
tolerate the side-effects of the daily
injections or medicine may refuse this
burdensome therapy and eventually die of iron