Thalassemia Definition, Reason, Symptoms, Treatment & Prevention
Definition
Thalassemia is a disease that attacks hemoglobin, a part of red blood cells that plays an important role in transporting oxygen and nutrients to the body’s cells.
Hemoglobin in thalassemia patients is abnormal and the amount is small. As a result, oxygen and nutrients to cells become much less and has the potential to cause anemia. This disorder is a hereditary disease, meaning that it is inherited from both parents.
Thalassemia Symptom
Signs and symptoms of thalassemia include:
- Weak
- The skin is pale and looks yellowish
- Deformities of the facial bones
- Stunted growth
- Swollen belly
- The urine becomes dark
Thalassemia Reason
In principle, hemoglobin is composed of two types of protein, namely alpha globin and beta globin. Thalassemia occurs due to genetic abnormalities in one of these proteins.
On the basis of differences in the location of abnormalities in these proteins, thalassemia is grouped into two types:
- Alpha thalassemia
- Beta thalassemia
Both alpha and beta thalassemia have two types of thalassemia, namely:
- Thalassemia major
This type is inherited from both parents who both suffer from thalassemia
- Thalassemia minor
In this type, only one parent suffers from thalassemia
Generally, thalassemia minor has no symptoms and does not require special treatment.
Diagnosis
The diagnosis of thalassemia is established on the basis of blood tests, where:
- low levels of red blood cells
- small cell size
- the color is pale
- The shape varies from one blood cell to another
- the appearance of a bull’s eye on examination of blood cells under a microscope due to the uneven distribution of hemoglobin
If a husband and wife have thalassemia, it is possible that the child will suffer from this disease in the womb. The method used can be in the form of an examination of the placenta or amniotic fluid.
Thalassemia Treatment
Treatment for thalassemia is adjusted based on the severity and condition of each patient. In thalassemia minor, where the symptoms are quite mild, special treatment is generally not needed. Therapy such as blood transfusions, for example, is only needed in certain conditions such as after major surgery.
In contrast, patients with severe beta-thalassemia generally require lifelong blood transfusions. However, this blood transfusion has the potential to cause a buildup of iron which can actually worsen his health condition. Therefore, in addition to blood transfusions, sufferers also need additional medication to remove excess iron from the blood.
Another alternative treatment for thalassemia is to perform a stem cell transplant in the spinal cord. A stem cell transplant can free the sufferer from the obligation to do blood transfusions for the rest of his life.
Apart from medical treatment, it is also important for a person with thalassemia to maintain a healthy lifestyle by eating nutritious foods, avoiding vitamins with iron content, and trying to minimize the risk of infection.
Complications
Various complications can arise from thalassemia which include:
- Excess iron. This excess iron can damage the heart, liver and body’s hormone work
- Increases the risk of infection
- Bone deformities, especially in the face and skull
- Bones are brittle and break easily
- Spleen enlargement, impaired spleen function and risk of spleen rupture
- Growth disorders
- Rhythm disturbances and heart enlargement
Prevention
Generally, thalassemia cannot be prevented. If a husband and wife have thalassemia and do not want their children to have the same disease, the couple can do IVF or in vitro fertilization. The egg and sperm are brought together through a special method outside the uterus. After fertilization, a genetic examination is carried out. Only those who do not have the thalassemia gene will be inserted into the mother’s womb.
