Thalassemia

Thalassemia is an inherited (i.e., passed from parents to children through genes) blood disorder caused when the body doesn't make enough of a protein called hemoglobin, an important part of red blood cells. Thalassemia is a treatable disorder that can be well-managed with blood transfusions and chelation therapy.

Symptoms

There are a number of symptoms of Thalassemia, which may include

Fatigue
Weakness
Slow growth
Abdominal swelling
Dark urine
Facial bone deformities
Pale or yellowish skin

Complications

Beta thalassemia major causes major problems and can result in early death. Complications may include delayed growth, bone problems causing facial changes, liver and gall bladder problems, enlarged spleen, enlarged kidneys, diabetes, hypothyroidism, and heart problems.

Causes

Thalassemia is caused by mutations in the DNA of cells that make hemoglobin — the substance in red blood cells that carries oxygen throughout your body. The mutations associated with thalassemia are passed from parents to children.

Risk factors

Risk Factors

Family history of thalassemia. Thalassemia is passed from parents to children through mutated hemoglobin genes.
Certain ancestry. Thalassemia occurs most often in African Americans and in people of Mediterranean and Southeast Asian descent.

Prevention

In most cases, you can't prevent thalassemia. If you have thalassemia, or if you carry a thalassemia gene, consider talking with a genetic counselor for guidance if you want to have children.

How is it treated?

Treatment for acute myeloid leukemia is vital. It varies with the patient and stage of the disease. Treatment options include

Blood transfusions are the main way to treat moderate or severe thalassemia. This treatment gives you red blood cells with healthy hemoglobin. During a blood transfusion, a needle is used to insert an intravenous (IV) line into one of your blood vessels. You receive healthy blood through this line

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