Thalassemia
Thalassemia (thal-uh-SEE-me-uh) is a
hereditary blood disorder that causes your body to have less hemoglobin than
normal. Hemoglobin stimulates red blood cells to carry oxygen. Thalassemia can
cause anemia, leaving you tired. If you have central thalassemia, you may not
need treatment. But more serious ones may need regular blood transfusions. You
can take steps to deal with fatigue, such as choosing a healthy diet and
exercising regularly. Symptoms: There are several types of thalassemia. The symptoms
and signs you have depend on the type and severity of your condition. Signs and symptoms of thalassemia may include fatigue, weaknesses, pale or yellow skin, facial cerebral palsy, slow growth, swelling of the abdomen, and black urine. Some babies show signs and symptoms of thalassemia
at birth; others raise them during the first two years of life. Some people
with only one hemoglobin gene have no symptoms of thalassemia. When
to see a doctor? Make
an appointment with your child's doctor to determine if you have any signs or
symptoms of thalassemia. Causes: Thalassemia is caused by changes in the DNA of
hemoglobin cells - a substance in red blood cells that carries oxygen
throughout your body. The changes associated with thalassemia are passed on
from parents to children. Hemoglobin molecules made up of chains called alpha
and beta chains can be affected by genetic modification. In thalassemia, the
production of alpha or beta chains is reduced, leading to alpha-thalassemia or
beta-thalassemia. In alpha-thalassemia, the severity of the thalassemia you have
depends on the number of genes you receive from your parents. The more
genetically modified genes, the more your thalassemia becomes. Four genes are
involved in the formation of the alpha hemoglobin chain. You get two from each
of your parents. If you receive an inheritance: Once
genetically modified, you
will not have any signs or symptoms of thalassemia. But you are the carrier of
the disease and can pass it on to your children. With two genetically modified
genes, your signs and symptoms of thalassemia will be mild. This condition can
be called the alpha-thalassemia trait. With
the three modified genes, your
signs and symptoms will be moderate to severe. Finding four genetically
modified genes is rare and often leads to the birth of a stillborn baby. Babies
born with this condition usually die soon after birth or require lifelong
transfusion treatment. In rare cases, a baby born with this condition can be treated
with a transfusion and a stem cell transplant. In
beta-thalassemia, the
severity of the thalassemia you have depends on which part of the hemoglobin
molecule is involved. Two genes are involved in making a chain of beta
hemoglobin. You get one from your parents individually. If you receive an
inheritance: One genetic modification, you will have soft marks and symptoms. This
condition is called minor thalassemia or beta-thalassemia. With
two genetically modified genes, your symptoms and traits will be in the middle
of him hard. This condition is called severe thalassemia, or Cooley anemia.
Babies born with two genetically modified beta hemoglobin are generally healthy
at birth but develop signs and symptoms within the first two years of life. A
mild form, called thalassemia intermedia, can also be derived from two mutated
genes.
Risk
factors: Factors that increase the risk of
thalassemia include: Family history of thalassemia: Thalassemia is transmitted from parents to
children through the use of hereditary hemoglobin genes. Some
ancestors: Thalassemia
is most common in African Americans and the Mediterranean and Southeast Asia. Complications: Potential complications of moderate to severe
thalassemia include: Iron overload: People with thalassemia can get a lot of iron
in their bodies, either from the disease or through regular blood transfusions.
Too much iron can lead to damage to your heart, liver, and endocrine system,
including the hormone-producing glands that regulate processes throughout your
body. Infection: People with thalassemia have an increased risk
of infection. This is especially true if you have a bowel movement. In severe cases of thalassemia, the following problems
may occur: Osteoporosis: Thalassemia can cause your bone marrow to
grow, causing your bones to expand. This can cause abnormal bone formation,
especially on your face and skull. Bone marrow extensions make the bones
thinner and brittle, which in turn increases the risk of fractures. Enlarged
spleen: The
testicles help your body fight infections and filter out unwanted substances,
such as old or damaged blood cells. Thalassemia is often associated with the
destruction of a large number of red blood cells. This causes your spleen to
grow and work harder than usual. An enlarged spleen can make anemia worse, and it can
shorten the life of transfused red blood cells. If your spleen grows too large,
your doctor may suggest surgery to remove it. Decreased
growth rate: Anemia
can slow down a child's growth and slow down puberty. Heart
problems: Strong
heart failure and irregular heartbeats may be associated with severe
thalassemia.
Prevention: In
most cases, you cannot prevent thalassemia. If you have thalassemia, or if you
have a genetic thalassemia gene, consider talking to a geneticist for guidance
if you want to have children. There is a type of assisted reproductive technology,
which tests the fetus in its early stages of genetic mutation combined with in
vitro fertilization. This can help parents with thalassemia or genetic
hemoglobin carriers to have healthy children. This process involves retrieving
ripe eggs and fertilizing them with sperm in a container in the laboratory.
Embryos are tested for defective genes, and only those that do not have genetic
problems are implanted in the uterus.
Diagnosis: Most
children with moderate to severe thalassemia show signs and symptoms during
their first two years of life. If your doctor suspects that your child has thalassemia,
he or she may confirm your diagnosis with a blood test. Blood tests can reveal
the number of red blood cells as well as abnormalities in size, shape, or
color. Blood tests can also be used to scan DNA for genetic mutations. Prenatal
testing: The test
can be done before the baby is born to determine if he or she has thalassemia
and to determine how serious it can be. Tests used to diagnose thalassemia in
infants include Sample chorionic villus: Usually performed during the 11th week of pregnancy,
this test involves removing a small piece of placenta for testing. Amniocentesis: Usually performed during the 16th week of pregnancy,
this test involves examining a sample of the fluid around the fetus.
Treatment: Mild
forms of the thalassemia feature do not require treatment. For moderate to severe thalassemia, treatment may
include: Regular blood transfusions: The most severe forms of thalassemia usually require
regular blood transfusions, possibly every few weeks. Over time, blood
transfusions cause the buildup of iron in your bloodstream, which can damage
your heart, liver, and other organs. Chelation Treatment: This treatment removes excess iron from your blood.
Iron can grow as a result of regular injections. Some people with thalassemia
who do not get regular transfusions may have more iron. Extracting excess iron
is important for your health. To help detoxify your body, you may need to take
oral medications, such as deferasirox (Exjade, Jadenu) or deferiprone
(Ferriprox). Another drug, deferoxamine (Desferal), is given by injection. Stem
cell transplantation: Also called bone marrow transplantation, stem cell
implants may be an option in some cases. In children with severe thalassemia,
it can eliminate the need for lifelong blood transfusions and iron suppressants. This process involves obtaining the donation of stem
cells from a compatible donor, usually a sibling.
What
you can do: Make a list of Your
child's symptoms, including
any that might appear to be unrelated to his or her reason for meeting the
occasion, and when they started. Family members had thalassemia. All
the medicines, vitamins,
and other supplements your child takes, including dosages. Questions you should
ask your doctor. With thalassemia, some questions you should ask your doctor
include:
What
is the most common cause of a child's symptoms?
Are
there other possible causes?
What
kinds of tests are needed?
What
therapies are available?
What
therapies do you recommend?
What
are the most common side effects of each treatment?
How
can this be best addressed with other health conditions?
Are
there any dietary restrictions? Do you recommend nutritional supplements?
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