Thalassemia - Basic

KonectHealth Team
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hemoglobin electrophoresis

What is thalassemia?

Thalassemia is an inherited blood disorder in which the body makes an abnormal form of hemoglobin. Hemoglobin is the protein molecule in red blood cells that carries oxygen.

The disorder results in excessive destruction of red blood cells, which leads to anemia. Anemia is a condition in which your body doesn’t have enough normal, healthy red blood cells.

What are the symptoms of thalassemia?

The symptoms of thalassemia can vary. Some of the most common ones include:

• bone deformities, especially in the face

• dark urine

• delayed growth and development

• excessive tiredness and fatigue

• yellow or pale skin

What causes thalassemia?

Thalassemia occurs when there’s an abnormality or mutation in one of the genes involved in hemoglobin production. You inherit this genetic defect from your parents.

If only one of your parents is a carrier for thalassemia, you may develop a form of the disease known as thalassemia minor. If this occurs, you probably won’t have symptoms, but you’ll be a carrier of the disease. Some people with thalassemia minor do develop minor symptoms.

If both of your parents are carriers of thalassemia, you have a greater chance of inheriting a more serious form of the disease.

What are the different types of thalassemia?

There are three main types of thalassemia (and four subtypes):

• beta thalassemia, which includes the subtypes major and intermedia

• alpha thalassemia, which include the subtypes hemoglobin H and hydrops fetalis

• thalassemia minor

How is thalassemia diagnosed?

By a test known as haemoglobin electrophoresis.

What are the treatment options for thalassemia?

Some of the treatments include:

• blood transfusions

• bone marrow transplant

• medications and supplements

• possible surgery to remove the spleen or gallbladder