Table of Content
What is thalassemia?
Thalassemia is a blood -borne disease in which the body produces abnormal hemoglobin. Hemoglobin is a molecule of red blood cells that carries oxygen.
These bacteria cause a lot of damage to red blood cells, leading to red blood cells. Anemia is a condition in which the body does not have enough red blood cells.
Thalassemia has a beneficial effect, which means that at least one of your parents will have to suffer from the disease. It is caused by genetic mutations or the removal of some important genetic material.
Mild thalassemia is a rare type of disease. The two main types of thalassemia are more severe. In alpha thalassemia, at least one of the alpha globingenes is mutated or abnormal. In beta-thalassemia, beta-globingenes are damaged.
Each type of thalassemia has different subtypes. Its appearance may be related to the severity and visibility of your symptoms.
Symptoms of thalassemia
The symptoms of thalassemia can vary. Some of the most common ones include:
- bone deformities, especially in the face
- dark urine
- delayed growth and development
- excessive tiredness and fatigue
- yellow or pale skin
Not everyone has visible symptoms of thalassemia. Signs of the disorder also tend to show up later in childhood or adolescence.
Causes of thalassemia
Thalassemia occurs when there is an abnormality or mutation in one of the genes involved in the production of hemoglobin. You inherited this genetic disorder from your parents.
If only one of your parents is a carrier of thalassemia, you may have a type of disease called minor thalassemia. If this happens, you probably won’t notice any symptoms, but you are a carrier. Some people with mild thalassemia have mild symptoms.
If both of your parents are carriers of thalassemia, you are more likely to inherit a more severe form of the disease.
Thalassemia is most common in people from Asia, the Middle East, Africa, and the Mediterranean, such as Greece and Turkey.
Different types of thalassemia
There are three main types of thalassemia (and four subtypes):
- beta thalassemia, which includes the subtypes major and intermedia
- alpha thalassemia, which include the subtypes hemoglobin H and hydrops fetalis
- thalassemia minor
All of these types and subtypes vary in symptoms and severity. The onset may also vary slightly.
Diagnosis thalassemia
If your doctor tries to diagnose thalassemia, he will probably do a blood test. They send this sample to a laboratory for testing for anemia and abnormal hemoglobin levels. The lab technician will also examine the blood under a microscope to see if the red blood cells are in a strange shape.
Abnormally formed red blood cells are a sign of thalassemia. The laboratory can also perform a test called hemoglobin electrophoresis. This study isolated several molecules of red blood cells to detect an abnormal type.
Depending on the type and severity of thalassemia, a physical examination may also help the doctor make a diagnosis. For example, a strongly enlarged spleen may tell your doctor that you have hemoglobin H disease.
Treatment options for thalassemia
Treatment of thalassemia depends on the type and severity of the disease. Your doctor will prescribe the treatment that is best for you.
Some treatments include:
- blood transfusions
- bone marrow transplant
- medications and supplements
- possible surgery to remove the spleen or gallbladder
Your doctor may advise you not to take vitamins or supplements that contain iron. This is especially important when you need to transfuse blood, because people who get it accumulate excess iron, which is not easily eliminated by the body. Iron can accumulate in substances, which can be fatal.
If you have a blood transfusion, you will also need chelation therapy. This usually involves the injection of a chemical that binds steel and other heavy metals. It helps to remove excess iron in the body.