Thalassemia

An inherited blood disorder where there problems with the formation (via mutated DNA genes) of haemoglobin and as a result form no or little amount of haemoglobin in the red blood cells, small sized  red blood cells and/or fewer red blood cells in your body than normal causing anaemia.

There are many types of Thalassemia:

• The type of thalassemia you have depends on the number of gene mutations you inherit from your parents and which part of the haemoglobin molecule is affected by the mutations.
• The more mutated genes, the more severe your thalassemia. Haemoglobin molecules are made of alpha and beta parts that can be affected by mutations.

Alpha-thalassemia

Four genes are involved in making the alpha haemoglobin chain. You get two from each of your parents. If you inherit:

• 1 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.
• 2 mutated genes, your thalassemia signs and symptoms will be mild. This condition may be called alpha-thalassemia trait.
• 3 mutated genes, your signs and symptoms will be moderate to severe.
• 4 mutated genes. This type is rare. Affected fetuses have severe anemia and usually are stillborn. Babies born with this condition often die shortly after birth or require lifelong transfusion therapy. In rare cases, a child born with this condition may be treated with transfusions and a stem cell transplant, which is also called a bone marrow transplant.

Two genes are involved in making the beta haemoglobin chain. You get one from each of your parents. If you inherit:

• 1 mutated gene, you’ll have mild signs and symptoms. This condition is called thalassemia minor or beta-thalassemia.
• 2 mutated genes, your signs and symptoms will be moderate to severe. This condition is called thalassemia major, or Cooley 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 may occur with two mutated genes.

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Thalassemia intermedia

• A moderate type of thalassemia that may require a times blood transfusions

Alpha thalassaemia major

• Where one  has alpha thalassemia and need blood transfusion

Beta thalassemia- intermedia (Cooley anaemia)

• Where one  has beta thalassemia and may not need or at times need blood transfusion

Beta thalassaemia major

• Where one  has beta thalassemia and need blood transfusion

Haemoglobin H disease

• Haemoglobin H  disease is a moderate to severe form of alpha-thalassemia