Thalassemia is an inherited blood disorder in which the body
makes an abnormal form of hemoglobin. Hemoglobin is the protein molecule in red
blood cells that carries oxygen.
The disorder results in excessive
destruction of red blood cells, which leads to anemia. Anemia is a
condition in which your body doesn’t have enough normal, healthy red blood
cells.
Thalassemia is inherited, meaning
that at least one of your parents must be a carrier of the disease. It’s caused
by either a genetic mutation or a deletion of certain key gene fragments.
Thalassemia minor is a less
serious form of the disorder. There are two main forms of thalassemia that are
more serious. In alpha thalassemia, at least one of the alpha globin genes has
a mutation or abnormality. In beta thalassemia, the beta globin genes are
affected.
Each of these forms of
thalassemia has different subtypes. The exact form you have will affect the
severity of your symptoms and your outlook.
The impact can range
from mild to severe and life-threatening. Around 100,000 newborns
are delivered each year with severe forms of thalassemia. It is most common
with Mediterranean, South Asian, and African ancestry.
Symptoms
The symptoms of
thalassemia vary depending on the type of thalassemia.
Symptoms will not
show until the age of 6 months in most infants with beta thalassemia and some
types of alpha thalassemia. This is because neonates have a different type of
hemoglobin, called fetal hemoglobin.
After 6 months
"normal" hemoglobin starts replacing the fetal type, and symptoms may
begin to appear.
These include:
· Jaundice and pale skin
· Drowsiness and fatigue
· Chest pain
· Cold hands and feet
· Shortness of breath
· Leg cramps
· Rapid heart beat
· Poor feeding
· Delayed growth
· Headaches
· Dizziness and faintness
· Greater susceptibility to infections
· Skeletal deformities may result as
the body tries to produce more bone marrow.
· If there is too much iron, the body
will try to absorb more iron to compensate. Iron may also accumulate from blood
transfusions. Excessive iron can harm the spleen, heart, and liver.
Patients with hemoglobin H are more likely to
develop gallstones and
an enlarged spleen. Untreated,
the complications of thalassemia can lead to organ failure.
Thalassemia occurs when there’s
an abnormality or mutation in one of the genes involved in hemoglobin
production. You inherit this genetic defect from your parents.
If only one of your parents is a
carrier for thalassemia, you may develop a form of the disease known as
thalassemia minor. If this occurs, you probably won’t have symptoms, but you’ll
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 greater chance of inheriting a more serious
form of the disease.
According to the Centers for Disease Control and Prevention (CDC),
thalassemia is most common in people from Asia, the Middle East, Africa, and
Mediterranean countries such as Greece and Turkey.
Thalassemia is really a group of blood problems, not just one.
To
make hemoglobin you need two proteins, alpha and beta. Without enough of
one or the other, your red blood cells can’t carry oxygen as they should.
Alpha
thalassemia means you lack alpha hemoglobin. With beta thalassemia, you lack beta hemoglobin.
Your
doctor may also talk about thalassemia minor and thalassemia major, or Cooley’s anemia.
The minor type is less serious than the major one, and your type won’t change.
There are three main
types of thalassemia (and four subtypes):
Beta thalassemia,
which includes the subtypes major and intermedia
Alpha thalassemia,
which include the subtypes hemoglobin H and hydrops fetalis
thalassemia minor
All of these types
and subtypes vary in symptoms and severity. The onset may also vary slightly.
Diagnosis
Most children with
moderate to severe thalassemia receive a diagnosis by the time they are 2 years
old.
People with no
symptoms may not realize that they are carriers until they have a child with
thalassemia.
Blood tests can
detect if a person is a carrier or if they have thalassemia.
A complete blood
count (CBC): This can check levels of hemoglobin and the level and size of red
blood cells.
A reticulocyte count:
This measures how fast red blood cells, or reticulocytes, are produced and
released by the bone marrow. Reticulocytes usually spend around 2 days in the
bloodstream before developing into mature red blood cells. Between 1 and 2
percent of a healthy person's red blood cells are reticulocytes.
Iron: This will help
the doctor determine the cause of anemia, whether thalassemia or iron
deficiency. In thalassemia, iron deficiency is not the cause.
Genetic testing: DNA
analysis will show whether a person has thalassemia or faulty genes.
Prenatal testing:
This can show whether a fetus has thalassemia, and how severe it
might be.
Chorionic villus
sampling (CVS): a piece of placenta is removed for testing, usually around the
11th week of pregnancy.
Amniocentesis: a
small sample of amniotic fluid is taken for testing, usually during
the 16th week of pregnancy. Amniotic fluid is the fluid that surrounds the
fetus.
Thalassemia also brings up different concerns related to
pregnancy. The disorder affects reproductive
organ development. Because of this, women with thalassemia may encounter fertility
difficulties.
To ensure the health
of both you and your baby, it’s important to plan ahead of time as much as
possible. If you want to have a baby, discuss this with your doctor to
make sure that you’re in the best health possible. Your iron levels will need
to be carefully monitored. Preexisting issues with major organs are also
considered.
Pregnancy carries
the following risk factors in women with thalassemia:
a higher risk for
infections
gestational
diabetes
heart problems
hypothyroidism,
or low thyroid
increased number of
blood transfusions
low bone density
Living
with Thalassemia
You’ll want to work
closely with your doctor and keep up with your treatments.
If you have
thalassemia, follow these habits to stay well:
Don’t take iron
pills.
Eat a healthy diet to keep your
bones strong and give you energy.
Ask your doctor about supplements like calcium and vitamin D.
Stay away from sick
people and wash your hands often.
If you get a fever
or feel ill, see your doctor.
You may also want to
look into joining a support group, so you can connect with other people who
have the condition.
WebMD Medical
Reference Reviewed by Jennifer Robinson, MD on January 09, 2015