Thalassemia is a blood disorder which affects the way the body makes hemoglobin.  This inherited disorder causes the body to make an abnormal form of hemoglobin. As a result , large numbers of red blood cells are destroyed and this leads to anemia.

Both boys and girls can have this condition. It is however more common in people who are talian, Greek, Middle Eastern, Asian or African. Many people with thalassemia lead healthy lives, a few have severe health issues and in severe cases , it may cause death.

What causes thalassemia ?

Thalassemia is  inherited. This means it is passed from parents to children through genes. Hemoglobin is made up of  2 proteins : alpha and beta globins .  This condition occurs when there is a defect in the gene that helps control one of these proteins.

There are two main types of thalassemia :

• alpha thalassemia : This occurs when a gene or genes related to the alpha globin protein are mutated. This usually occurs in  people from Southeast Asia, the Middle East, China, and in those of African descent.
• beta thalassemia : This is when a gene defect affects  the beta globin  protein . This usually occurs in persons of Mediterranean origin and to a lesser extent Chinese, other Asians, and African Americans

There are many forms of the disease too. Both the apha and beta types have these two forms

• thalassemia major : you need to inherit the gene from both parents to develop this form
• thalassemia minor : this occurs if you receive a faulty gene from just one parent . People with this form are called carriers  and do not have any symptoms.

What are the symptoms of thalassemia ?

Severe form of alpha thalassemia  can cause stillbirth. People with beta thalassemia major also known as Cooley’s anemia are normal at birth but develop severe anemia during the first year of life. Other  symptoms include :

• growth failure
• bone deformities in the face
• fatigue
• jaundice
• shortness of breath
• dark urine

Those who have the minor form of  this disease  have small red blood cells but no symptoms .

If your baby exhibits signs of this condition at birth, your health care provider will give your baby blood tests to check for the condition . The test will check your baby’s  red blood cells for size, color and shape. This will help determine the type of thalassemia your baby has.

What other health problems does thalassemia cause ?

When thalassemia is severe, it can lead to other complications such as :

• too much iron in the blood
• bone deformities
• infection
• large spleen
• slow growth
• heart problems

How is thalassemia treated ?

Treatment depends on the severity  of  your condition. If the condition is mild, no treatment may be needed. In severe cases , some of the treatment options include the following :

• blood transfusions : In severe cases , you may need blood transfusions as often as every 2 to 4 weeks
• iron chelation therapy : This is giving the child medicine in a pill (Deferasirox, also called Exjade®, or Deferiprone, also called Ferriprox®) or through a needle placed under the skin (Desferoxamine, also called Desferal®) to get rid of the extra iron
• folic acid supplement : Some people need folic acid supplement to treat anemia
• bone marrow transplant : This is a kind of stem cell transplant.  During the procedure,  your child gets new stem cells that may grow to make healthy, new cells. It is a risky process and used only for the most severe cases.