Thalassemia is one of the most common genetic diseases in the world. which is characterized by the absence or reduction of one of the globin chains, either -α or -β, which is the main component of the normal hemoglobin molecule. In addition, thalassemia also occurs due to the inability of the bone marrow to form proteins to produce hemoglobin. Lack of hemoglobin in the body can make red blood cells unable to function properly, causing damage to red blood cells. This is what causes people with Thalassemia to experience anemia or lack of blood. Red blood cells function to circulate oxygen throughout the body, so a lack of red blood cells in the body means the body will lack oxygen. Lack of oxygen levels in the body can make sufferers feel tired, weak, lethargic, or even short of breath.
Classification of Thalassemia
Broadly speaking, Thalassemia is divided into several types based on the level of severity, including:
- Thalassemia Minor
This type of thalassemia is mild thalassemia. People with Thalassemia minor can occur in healthy people and without symptoms, but these people carry the Thalassemia gene which can be passed on to their children. People with this type of thalassemia do not need blood transfusions to survive
- Thalassemia Intermedia
Thalassemia intermedia is a combination of thalassemia major and minor. In some cases of this type of thalassemia, people need regular blood transfusions to survive
- Thalassemia Major
This type of thalassemia can be suffered by children if both parents are carriers of the thalassemia gene. Thalassemia major is included in the severe thalassemia group, because people with thalassemia major will need blood transfusions for the rest of their lives to survive.
Symptoms of Thalassemia
Symptoms experienced by people with Thalassemia differ depending on the type and severity. The type of Thalassemia can affect the symptoms that appear. Here are some common symptoms experienced by people with Thalassemia:
- Easily tired
- Weak
- Yellowish or pale skin
- Delayed growth
- Dark urine
- Swelling occurs in the abdominal area
Some symptoms can appear when a newborn is born, but it is not uncommon for some cases of thalassemia symptoms to appear after the age of 2 years and over. Therefore, it is important to carry out routine health checks on children.
Thalassemia risk factors and management
Risk factors that can increase thalassemia are family history and heredity. Thalassemia can only be passed on genetically from parent to child. Thalassemia is a disease that cannot be prevented. Therefore it is necessary to carry out special examinations for married couples when they want to have children to find out the risk of carrying the Thalassemia gene
People with Thalassemia require lifelong treatment to survive. Some of the treatments that can be done, namely:
- Performing continuous blood transfusions throughout his life to increase red blood cells in the body
- Iron Chelation Therapy or Iron Chelation as a prevention of organ damage due to iron buildup in the blood
- In people with Thalassemia major, a bone marrow transplant procedure can be performed
- Taking folic acid supplements to help the development of red blood cells in blood transfusion recipients
- Do a Human Leukocyte Antigens or HLA test
Although Thalassemia is a disease that cannot be cured, Thalassemia can be prevented by preventing marriages of carriers of the Thalassemia gene. Therefore it is important to examine the prospective husband and wife before marriage. Some of the prevention that can be done is to do a blood test to find out the value of hemoglobin, screening for Thalassemia, carrying out genetic consultations, and prenatal checks as preparation for pregnancy.
Article written by dr. Anky Tri Rini, Sp.A (K) (Child Specialist at EMC Pulomas Hospital).