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What is Thalassemia?

Thalassemia is a complex group of inherited blood disorders in which there is abnormal haemoglobin production.

Haemoglobin 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 the body to your lungs so that it can be exhaled. This condition can lead to anaemia, due to a lack of healthy red blood cells needed to carry adequate oxygen throughout the body.

Causes

Thalassemia is caused by mutations in the DNA of cells that make haemoglobin. The mutations associated with thalassemia are passed from parents to children.

Symptoms

The exact symptoms will depend on the type of disease, and how mild or severe it is. Common symptoms of Thalassemia may include:
•   Fatigue
•   Weakness
•   Pale or yellowish skin
•   Facial bone deformities
•   Slow growth
•   Abdominal swelling
•   Dark urine

Diagnosis & Treatment

Thalassemia is diagnosed by a Doctor using a physical examination and blood tests.

Treatment aims to increase haemoglobin levels and decrease the incidence of iron overloading, which can damage the endocrine glands, liver, pancreas and myocardium. Treatment will depend on the severity of the condition and can include:
•   Blood transfusions
•   Removing excess iron from the body
•   Bone marrow transplants

Additional Information

As of 2013, Thalassemia occurs in about 280 million people, with about 439,000 having a severe form of the disease.

Thalassemia’s occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent.

The type of thalassemia you have depends on the number of gene mutations you inherit from your parents, and which part of the haemoglobin molecule is affected by the mutations. The main types of Thalassemia include:
•   Alpha Thalassemia
•   Beta Thalassemia
•   Delta Thalassemia

Also see: Anaemia