What is Thalassemia?

Thalassemia is an inherited blood disorder in which the body produces an anomalous makeup of hemoglobin, which can result in the red blood cells becoming obstructed and ultimately lead to anemia. Anemia occurs when the red blood cell count is lower than normal, and can result in symptoms such as shortness of breath, fatigue, hair loss, heart palpitations, and a general unwell feeling. Unlike other diseases, thalassemia is not something you can catch by being around another individual with the condition. To develop thalassemia, at least one of your parents has to be a carrier of it.

There are three main forms of thalassemia:

• Alpha thalassemia
• Beta thalassemia
• Thalassemia minor

Alpha thalassemia occurs when your hemoglobin doesn’t produce enough alpha protein. This form of thalassemia is commonly found in Africa, the Middle East, South East Asia, South China, and in the Mediterranean region occasionally. Beta thalassemia occurs when your hemoglobin doesn’t produce enough beta protein, and is usually found in individuals of Mediterranean descent (such as Greeks or Italians), as well as found in the Arabian Peninsula, South East Asia, South China, and Africa.

Alpha and beta thalassemia are considered to be the most serious of the three forms, whereas thalassemia minor is less serious and may not always require treatment. It is important to note that each of these forms of thalassemia has different subtypes, therefore the severity of your symptoms is dependent on the form of thalassemia that you have. One common sign that you may have thalassemia and/or anemia is dark urine, as this is usually a sign that your red blood cells are breaking down. Other symptoms include poor appetite, a pale appearance, jaundice (yellowing of the skin), and enlarged heart, liver or spleen.

To diagnose thalassemia, Dr. Ali Ghahary will refer a patient for what is called a CBC, otherwise known as a Complete Blood Count. This is a type of blood test that can be performed at any lab across Vancouver or the surrounding area.

If you are diagnosed with thalassemia, individuals may require regular blood transfusions. The job of the blood transfusion is to add healthy red blood cells into the body, thus helping them to effectively carry oxygen and give the patient more energy. While blood transfusions are relatively safe, complications can occur. This usually happens when your body rejects the blood due do it containing a protein that your body does not accept. Common symptoms of complications of a blood transfusion include high fever, nausea, diarrhea, chills, and a drop in blood pressure. When receiving a transfusion, your vitals are taken which can help alert healthcare providers, such as nurses, to any complications that may be occurring.

While individuals with thalassemia can live long, healthy and productive lives, it is also important to be aware of other medical complications that can occur – usually cause by the underlying anemia, or overload of iron due to blood transfusions. The most common medical complication in patients with thalassemia is the development of cardiac problems, such as arrhythmia (irregular heartbeat.) Other symptoms that may accompany a cardiac problem include shortness of breath, chest pain, nausea, fainting, fatigue, and swelling in the legs or ankles.

If you notice any of these symptoms or ones that are not listed here, it is important to see your physician immediately.

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