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.

Complications of Thalassemia

Possible complications of thalassemia include:

• Iron overload. People with thalassemia can get too much iron in their bodies, either from the disease itself or from frequent blood transfusions. Too much iron can result in damage to your heart, liver and endocrine system, which includes glands that produce hormones that regulate processes throughout your body.
• Infection. Thalassemia increases your risk of developing a blood-borne infection related to blood transfusions, such as hepatitis, which is a virus that can damage your liver.

In cases of severe thalassemia, the following complications can occur:

• Bone deformities. Thalassemia can make your bone marrow expand, which causes your bones to widen. This can result in abnormal bone structure, especially in your face and skull. Bone marrow expansion also makes bones thin and brittle, increasing the chance of broken bones, particularly in your spine. Spine factures can result in compression of your spinal cord.
• Enlarged spleen (splenomegaly). The spleen helps your body fight infection and filter unwanted material, such as old or damaged blood cells. Thalassemia often destroys a large number of red blood cells, making your spleen work harder than normal, causing it to enlarge. Splenomegaly can make anemia worse, and it can reduce the life of transfused red blood cells. If your spleen grows too big, it may need to be removed.
• Slowed growth rates. Anemia can cause a child's growth to slow. Children with severe thalassemia rarely reach a normal adult height. Due to endocrine problems, puberty also may be delayed in these children.
• Heart problems. Heart problems, such as congestive heart failure and abnormal heart rhythms (arrhythmias), may be associated with severe thalassemia.

Causes of Thalassemia

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.

Signs & Symptoms of Thalassemia

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.

Diagnosis of Thalassemia

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 of Thalassemia

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.

Prevention of Thalassemia

In most cases, thalassemia cannot be prevented. If you have thalassemia, or if you carry a thalassemia gene, consider talking with a genetic counselor for guidance before you have or father a child.

When to seek Medical Advice

Make an appointment with your child's doctor for an evaluation if he or she has any of the following signs or symptoms of thalassemia:

• Fatigue
• Weakness
• Shortness of breath
• Yellow discoloration of the skin (jaundice)
• Bone deformities in the face
• Slow growth
• Protruding abdomen
• Dark urine