Thalassemia is an inherited blood disorder that causes your body to have less haemoglobin than normal. Haemoglobin enables red blood cells to carry oxygen. Thalassemia can cause anaemia, leaving you fatigued.
If you have mild thalassemia, you might not need treatment. But more severe forms might require regular blood transfusions. You can take steps to cope with fatigue, such as choosing a healthy diet and exercising regularly.
Signs and symptoms can include:
- Pale or yellowish skin
- Facial bone deformities
- Slow growth
- Abdominal swelling
- Dark urine
Some babies show signs and symptoms of thalassemia at birth; others develop them during the first two years of life. Some people who have only one affected haemoglobin gene don't have thalassemia symptoms.
There are two main types of thalassemia: alpha thalassemia and beta thalassemia.
Four genes are involved in making the alpha haemoglobin chain. You get two from each of your parents. If you inherit:
- One mutated gene, you'll have no signs or symptoms of thalassemia. But you are a carrier of the disease and can pass it on to your children.
- Two mutated genes, your thalassemia signs and symptoms will be mild. This condition might be called alpha-thalassemia trait.
- Three mutated genes, your signs and symptoms will be moderate to severe.
Inheriting four mutated genes is rare and usually results in stillbirth. Babies born with this condition often die shortly after birth or require lifelong transfusion therapy. In rare cases, a child born with this condition can be treated with transfusions and a stem cell transplant.
Two genes are involved in making the beta haemoglobin chain. You get one from each of your parents. If you inherit:
- One mutated gene, you'll have mild signs and symptoms. This condition is called thalassemia minor or beta-thalassemia.
- Two mutated genes, your signs and symptoms will be moderate to severe. This condition is called thalassemia major, or Cooley’s anaemia.
Babies born with two defective beta haemoglobin genes usually are healthy at birth but develop signs and symptoms within the first two years of life. A milder form, called thalassemia intermedia, also can result from two mutated genes.