Thalassemia

Thalassemia (Mediterranean anemia) is an inherited blood disorder characterized by less hemoglobin

and fewer red blood cells in your body than normal.

Hemoglobin is the substance in your red blood cells that allows these cells to carry oxygen. The low
hemoglobin and fewer red blood cells of thalassemia may cause anemia, leaving you fatigued.

If you have mild thalassemia, you may not need treatment. But, if you have a more severe form of
thalassemia, you may need regular blood transfusions. You can also take steps on your own, such as
eating a good diet, to help boost your energy.

Symptoms
Signs and symptoms of thalassemia include:

 Fatigue

 Weakness

 Shortness of breath

 Pale appearance

 Irritability

 Yellow discoloration of skin (jaundice)

 Facial bone deformities

 Slow growth

 Protruding abdomen

 Dark urine

The signs and symptoms you experience depend on your type and severity of thalassemia. Some
babies show signs and symptoms of thalassemia at birth, while others may develop signs or
symptoms later, during the first two years of life. Some people who have only one affected
hemoglobin gene don't experience any thalassemia symptoms.

Causes
The cause of thalassemia is defects in the genes that make hemoglobin. The only way to get
thalassemia is to inherit one or more defective hemoglobin genes from your parents.

Hemoglobin is a red, iron-rich protein found in red blood cells. Hemoglobin enables red blood cells to
carry oxygen from your lungs to all parts of your body and to carry carbon dioxide from other parts of
your body to your lungs so that it can be exhaled. Most blood cells, including red blood cells, are
produced regularly in your bone marrow — a red, spongy material found within the cavities of many of
your large bones.
 Thalassemia disrupts the normal production of hemoglobin and leads to a low level of hemoglobin and
a high rate of red blood cell destruction, causing anemia. When you're anemic, your blood doesn't
have enough red blood cells to carry oxygen to your tissues — leaving you fatigued.

There are two major types of thalassemia: alpha and beta, named for the two protein chains that
make up normal hemoglobin. The type of thalassemia you have depends on the type of defective gene
you inherit.

Alpha-thalassemia 
Four genes are involved in making the alpha hemoglobin chain. You get two from each of your
parents. If one or more of the alpha hemoglobin genes are defective, you develop alpha-thalassemia.

The more defective genes you have, the more severe your alpha-thalassemia:

 One gene. If only one of your alpha hemoglobin genes is defective, you'll have no signs or
symptoms of thalassemia. But, you're a carrier of the disease and can pass it on to your children.

 Two genes. If you have two defective alpha hemoglobin genes, thalassemia signs and
symptoms are mild. This condition may be called alpha-thalassemia minor, or you may be told you
have an alpha-thalassemia trait.

 Three genes. If three of your alpha hemoglobin genes are defective, your signs and
symptoms will be moderate to severe. This condition is also called hemoglobin H disease.

 Four genes. When all four alpha hemoglobin genes are defective, the condition is called
alpha-thalassemia major or hydrops fetalis. It usually causes a fetus to die before delivery or shortly
after birth.

Beta-thalassemia

Two genes are involved in making the beta hemoglobin chain. You get one from each of your parents.
If one or both of the beta hemoglobin genes are defective, you develop beta-thalassemia.

 One gene. If one of your beta hemoglobin genes is defective, you have mild signs and
symptoms. This condition is called beta-thalassemia minor or referred to as a beta-thalassemia trait.

 Two genes. If both of your beta hemoglobin genes are defective, your signs and symptoms
will be moderate to severe. This condition is called beta-thalassemia major or Cooley's anemia. Babies
born with two defective beta hemoglobin genes usually are healthy at birth, but develop signs and
symptoms within the first two years of life.

Risk factors
Factors that increase your risk of thalassemia include:

 Family history. Thalassemia is passed from parents to children through defective hemoglobin

genes.

 Ancestry. Thalassemia occurs most often in people of Italian, Greek, Middle Eastern, southern
Asian and African ancestry. Alpha-thalassemia affects mainly people of Southeast Asian, Chinese and
Filipino descent.
 Tests and diagnosis
Most children with moderate to severe thalassemia show signs and symptoms within their first two
years of life. If your doctor suspects your child has thalassemia, he or she may confirm a diagnosis
using blood tests.

If your child has thalassemia, blood tests may reveal:

 A low level of red blood cells

 Smaller than expected red blood cells

 Pale red blood cells

 Red blood cells that are varied in size and shape

 Red blood cells with an uneven hemoglobin distribution, which gives the cells a bull's-eye
appearance under the microscope

Blood tests may also be used to:

 Measure the amount of iron in your child's blood

 Evaluate his or her hemoglobin

 Perform DNA analysis to diagnose thalassemia or to determine if a person is carrying defective

hemoglobin genes

Prenatal testing 
Testing can be done before a baby is born to find out if he or she has thalassemia and determine how
severe it may be. Tests used to diagnose thalassemia in unborn babies include:

 Chorionic villus sampling. This test is usually done around the 11th week of pregnancy and
involves removing a tiny piece of the placenta for evaluation.

 Amniocentesis. This test is usually done around the 16th week of pregnancy and involves
taking a sample of the fluid that surrounds the baby.

 Fetal blood sampling. This test can be performed after 18 weeks of gestation and involves
taking blood from the fetus or the blood vessels in the umbilical cord using an ultrasound-guided
needle.

Assisted reproductive technology 

A form of assisted reproductive technology that combines pre-implantation genetic diagnosis with in
vitro fertilization may help parents who have thalassemia or who are carriers of a defective
hemoglobin gene give birth to healthy babies. The procedure involves retrieving mature eggs from a
woman and fertilizing them with a man's sperm in a dish in a laboratory. The embryos are tested for
the defective genes and only those without genetic defects are implanted in the woman.

Treatments and drugs

Treatment for thalassemia depends on which type you have and how severe it is.
 Treatments for mild thalassemia 
Signs and symptoms are usually mild with thalassemia minor and little, if any, treatment is needed.
Occasionally, you may need a blood transfusion, particularly after surgery, after having a baby or if
you develop an infection.

Treatment for moderate to severe thalassemia 

These more severe forms of thalassemia often require frequent blood transfusions, possibly eight or
more each year. Over time, blood transfusions cause a buildup of iron in your blood, which can
damage your heart, liver and other organs. To help your body get rid of the extra iron, you may need
to take medications known as "iron chelators." These medications may be given as a pill or as an
infusion under your skin (subcutaneous).

In some cases, a bone marrow transplant or a stem cell transplant may be used to treat severe
thalassemia. However, because these procedures have serious risks, including death, they're generally
reserved for people with the most severe disease who have a well-matched sibling donor available.

Lifestyle and home remedies

If you have thalassemia, be sure to:

 Avoid excess iron. Unless your doctor recommends it, don't take vitamins or other
supplements that contain iron.

 Eat a healthy diet. Eating a balanced diet that contains plenty of nutritious foods can help
you feel better and boost your energy. Your doctor may also recommend you take a folic acid
supplement to help your body make new red blood cells. Also, to keep your bones healthy, make sure
your diet contains adequate calcium, zinc and vitamin D. Ask your doctor what the right amounts are
for you, and whether you need to take a supplement.

Drinking tea may help keep your iron levels down because a substance in tea — tannins — prevents
iron from being absorbed in the gut. However, tea can't replace chelating medications if you receive
blood transfusions.

 Avoid infections. Protect yourself from infections with frequent hand washing and by
avoiding sick people. This is especially important if you've had to have your spleen removed. You'll
also need an annual flu shot, as well as the meningitis, pneumococcal and hepatitis B vaccines to
prevent infections. If you develop a fever or other signs and symptoms of an infection, see your doctor
for treatment.