What
is Thalassemia?
Thalassemia is a blood disorder
passed down through families (inherited) in which the body makes an abnormal
form of hemoglobin, the protein in red blood cells that carries oxygen. The
disorder results in excessive destruction of red blood cells, which leads to anemia. Anemia is a disorder in which your body doesn’t have
enough normal, healthy red blood cells (RBC).
This
disease is inherited, meaning that at least one of your parents must be a
carrier of the disease. It is caused by either a genetic mutation, or a
deletion of certain key genes.
The
two main forms of thalassemia are alpha thalassemia and beta thalassemia. In
alpha thalassemia, at least one of the alpha globin genes has a mutation or
abnormality. In beta thalassemia, the beta globin genes are the ones affected.
Each
of these two forms of thalassemia has several distinct types. The exact form
you have will affect the severity of your symptoms and your prognosis.
Causes
and Risk Factors for Thalassemia
Thalassemia
occurs when there is an abnormality or mutation in one of the genes involved in
hemoglobin production. This genetic defect is inherited from your parents.
If
only one of your parents is a carrier for thalassemia, you may develop a form
of the disease called “thalassemia minor.” If this occurs, you will probably
not have symptoms, but you will be a carrier of the disease. Some people with
thalassemia minor do develop minor symptoms.
If
both of your parents are carriers of thalassemia, you have a 25 percent chance
of inheriting a more serious form of the disease.
Thalassemia
is most common in people from Southeast and Central Asia, the Mediterranean,
the Middle East, India, and North Africa.
What Are the Symptoms of Thalassemia?
·
The symptoms of thalassemia depend on which type you have.
Thalassemia minor
Thalassemia minor usually does not cause any symptoms. If it
does, it causes only minor anemia.
Beta thalassemia
Beta thalassemia comes in two serious types: thalassemia major
(also called Cooley’s anemia) and thalassemia intermedia.
The symptoms of thalassemia major (Cooley’s anemia)
generally appear before a child’s second birthday. The severe anemia related to
this condition can be life-threatening. Other symptoms include:
·
fussiness
·
paleness
·
frequent infections
·
poor appetite
·
failure to thrive
·
jaundice (yellowing of the skin and whites of the eyes)
·
enlarged organs
This form of thalassemia is usually so severe that it requires
regular blood transfusions.
Thalassemia intermedia
is a less severe form of beta thalassemia. While people with
this condition still have anemia, they do not need blood transfusions.
Alpha thalassemia
Alpha thalassemia also has two serious types: hemoglobin H
disease and hydrops fetalis.
Hemoglobin H disease can cause bone issues. The cheeks, forehead, and jaw may
all overgrow. In addition to the bone issues and the anemia associated with any
kind of thalassemia, hemoglobin H disease can cause these other symptoms:
·
jaundice
·
extremely enlarged spleen
·
malnourishment
Hydrops fetalis is an extremely
severe form of thalassemia. It occurs before birth, and most individuals with
this condition are either stillborn or die shortly after being born.
How
Is Thalassemia Diagnosed?
A doctor who is trying to diagnose thalassemia
will typically take a blood sample. It will be tested for anemia and for
abnormal hemoglobin. A lab technician will also look at the blood under a
microscope to see if the red blood cells appear misshapen. Abnormally shaped
red blood cells are a symptom of thalassemia. Another test may be performed
called hemoglobin electrophoresis.
This test separates out the different molecules in the red blood cells,
allowing the abnormal type to be identified.
Depending
on the type and severity of the thalassemia, a physical examination might also
help in the diagnosis. For example, a severely enlarged spleen might suggest to
your doctor that you have hemoglobin H disease.
What
Is the Long-Term Outlook for Thalassemia?
The prognosis for thalassemia depends on
the type of the disease involved. Hydrops fetalis, for example, is usually
fatal either before or shortly after birth.
On the other hand, people who have mild
or minor forms of thalassemia can typically lead normal lives.
Other forms of thalassemia can fall anywhere in between. In severe cases, heart failure may occur in the
20s.
Your doctor can give you more
information about your personal prognosis, as well as how your treatments can
help improve your life or increase your expected lifespan.
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