Thalassemia is an inherited blood disorder which originated from the Mediterranean region and is caused by less than normal amounts of an oxygen-carrying protein, characterised by less haemoglobin and fewer red blood cells in your body. Haemoglobin is the protein molecule in red blood cells that carries oxygen. The low haemoglobin and fewer red blood cells of thalassemia may cause anaemia. Anaemia causes fatigue, weakness, paleness and slow growth.

Cause of Thalassemia

Haemoglobin consists of two proteins; they are alpha globin and beta globin. This condition is caused by the defect or mutation of the cells that make haemoglobin. This, in turn, causes fatigue as your blood cells carry less oxygen around your body.

Types of Thalassemia:

  • Alpha thalassemia

Alpha proteins are not produced due to missing genes in the body.

  • Beta thalassemia

Beta-globin are not produced due to mutated or defected genes in the body

Those two are major thalassemia, but there is also minor thalassemia. Minor thalassemia or thalassemia intermedia is a less severe form of the disorder. You may not need treatment if you have minor thalassemia. However, if you have major thalassemia, you may need regular blood transfusions.

There is also hydrops fetalis, which is an extremely severe form of thalassemia that occurs before birth. People with hydrops fetalis usually die shortly after birth or are stillborn. This condition develops when all four alpha globin genes are altered (mutated) or missing.

Symptoms

Thalassemia signs and symptoms may include:

  • Fatigue
  • Weakness
  • Pale or yellowish skin
  • Facial bone deformities
  • Slow growth
  • Abdominal swelling
  • Dark urine
  • Poor appetite
  • Enlarged organs

People with the minor form of thalassemia have small red blood cells but usually no symptoms. However, it is still important to get tested if one of your parents or a relative has some form of thalassemia.

Complications

Possible complications of thalassemia:

  • Iron overload

Iron overload in people with thalassemia is likely due to the frequent blood transfusions or the disease itself. Too much iron can result in heart, liver, and endocrine system damage.

  • Infection

Infection can happen with people in thalassemia, especially if the patient has had their spleen removed.

Severe thalassemia complications:

  • Bone deformities

Thalassemia can make your bone marrow expand, thus causes your bones to widen. This results in an abnormal bone structure, bone marrow expansion is prevalent in the face and skull of people and also makes the bones thin and brittle, making you more susceptible to broken bones.

  • Enlarged spleen

The spleen is an organ in the body that fights infection; it acts as a filter for damaged, old blood cells. As thalassemia destroys massive amounts of haemoglobin, this causes the spleen to work harder to filter those damaged blood cells and cause it to get enlarged.

  • Slow growth

Thalassemia can cause slow growth as a child. Thalassemia may also cause a delay in puberty.

If you are concerned with thalassemia, you can make sure with your doctor and book a doctor’s appointment easily with the Okadoc here.