Understanding Thalassemia

An Overview of Thalassemia

If you are someone you know has recently been diagnosed with Thalassemia, this article can provide more information on how to understand the cause of this disease.

Even though it is spoken of as a single disease, Thalassemia is actually a group of disorders. It results from a decrease in the amount of alpha or beta-globin molecules that are synthesized. The globin molecules are needed to synthesize hemoglobin, which binds oxygen within the red blood cell. The globin molecules are either alpha or beta, depending on which direction they are coiled.

Alpha-Globin Disorders

Hydrops fetalis – occurs when there are mutations in the area where all four of the alpha-globin genes are affected. This will result in no alpha-globin proteins produced and a baby born with this condition will be unable to survive, or stillborn.

Hemoglobin H Disease – results when at least three of the alpha-globin molecules are affected. There is only a small amount of alpha-globin produced. Anyone with this condition will be unable to transport oxygen properly. The red blood cell levels will be reduced, and there will be chronic hemolytic anemia. The person can also have pale skin, or an enlarged spleen. Hemoglobin H sufferers will occasionally need a blood transfusion.

Thalassemia Minor – this can result when there are at least two healthy alpha-globin genes. This results in a reduced amount of alpha-globin, but the amount is still more than in the amount produced in Hemoglobin H disease. Thalassemia Minor will usually resemble a mild form of Microcytic Anemia.

Carriers – A carrier of Thalassemia is produced when the person has three regular alpha-globin genes, but a fourth gene that is mutated. If the carrier marries another carrier, or someone who has the disease, at least one of the offspring can be diagnosed with Thalassemia.

Beta-Globin Disorders

The alpha-globin molecules are not the only components of the Hemoglobin molecule that can cause Thalassemia. The beta-globin disorders are caused by mutations within the genes that produce the beta-globin molecules. Thalassemia is produced by mutations within the beta-globin genes are known as Thalassemia Major and Minor.

Thalassemia Major – in this disorder the body does not produce any of the beta-globin molecules. This is usually diagnosed with the first year of a child’s life. The symptoms and signs of Thalassemia Major are quite serious. A child will have an enlarged spleen and liver, along with stunted growth, and bone deformity. They are quite prone to fractures and liver jaundice. A child with Thalassemia Major might obtain some improvement after undergoing a blood transfusion, removal of their spleen, administration of folic acid, or a bone marrow transplant. However, a high mortality rate results from excess iron accumulating in the body.

Thalassemia Minor – when produced by the beta-globin genes, this is usually a mild form of Thalassemia. It will be necessary to distinguish it form alpha-Thalassemia Minor. Treatment for this type of Thalassemia is folate, along with a blood transfusion if the person is pregnant. Iron administration is contra-indicated in this condition.