Thalassaemia is an inherited blood disorder in which the body makes an abnormal form of hemoglobin. If both of your parents are carriers of Thalassemia, you have a greater chance of inheriting a more serious form of the disease. The three main forms of Thalassaemia are Alpha Thalassaemia, Beta Thalassaemia, and Thalassaemia Minor. The disorder results in excessive destruction of red blood cells, which leads to anaemia. anaemia is a condition in which your body doesn’t have enough normal, healthy red blood cells.
The symptoms of Thalassaemia can vary. Some of the most common ones include:
occurs when there’s an abnormality or mutation in one of the genes involved in hemoglobin production. You inherit this genetic defect from your parents. If only one of your parents is a carrier for Thalassaemia, you may develop a form of the disease known as Thalassaemia minor. If this occurs, you probably won’t have symptoms, but you’ll be a carrier of the disease. Some people with Thalassaemia minor do develop minor symptoms. If both of your parents are carriers of Thalassaemia, you have a greater chance of inheriting a more serious form of the disease.
There are three main types of Thalassaemia (and four subtypes):
All of these types and subtypes vary in symptoms and severity. The onset may also vary slightly.
Beta Thalassaemia occurs when your body can’t produce beta globin. Two genes, one from each parent, are inherited to make beta globin. This type of Thalassaemia comes in two serious subtypes: Thalassaemia major (Cooley’s anaemia) and Thalassaemia intermedia.
Thalassaemia major is the most severe form of beta Thalassaemia. It develops when beta globin genes are missing. The symptoms of Thalassaemia major generally appear before a child’s second birthday. The severe anaemia related to this condition can be life-threatening. Other signs and symptoms include:
form of Thalassaemia is usually so severe that it requires regular blood transfusions.
intermedia is a less severe form. It develops because of alterations in both beta globin genes. People with Thalassaemia intermedia don’t need blood transfusions.
Alpha Thalassaemia occurs when the body can’t make alpha globin. In order to make alpha globin, you need to have four genes, two from each parent.
This type of Thalassaemia also has two serious types: hemoglobin H disease and hydrops fetalis.
Hemoglobin H develops as when a person is missing three alpha globin genes or experiences changes in these genes. This disease can lead to bone issues. The cheeks, forehead, and jaw may all overgrow. Additionally, hemoglobin H disease can cause:
Hydrops fetalis is an extremely severe form of Thalassaemia that occurs before birth. Most individuals with this condition are either stillborn or die shortly after being born. This condition develops when all four alpha globin genes are altered or missing.
People with Thalassaemia minor don’t usually have any symptoms. If they do, it’s likely to be minor anaemia. The condition is classified as either alpha or beta Thalassaemia minor. In alpha minor cases, two genes are missing. In beta minor, one gene is missing.
The lack of visible symptoms can make Thalassaemia minor difficult to detect. It’s important to get tested if one of your parents or a relative has some form of the disease.
treatment for Thalassaemia depends on the type and severity of disease involved. Your doctor will give you a course of treatment that will work best for your particular case.
Some of the treatments include:
If you’re receiving a blood transfusion, you may also need Chelation Therapy. This generally involves receiving an injection of a chemical that binds with iron and other heavy metals. This helps remove extra iron from your body.
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