Thalassemia: What We Need to Know

Thalassemia is a blood disorder disease characterized by erythrocytes that are more prone to breakage or with shorter life cycle than normal ones, which can live up to 120 days. As a result, thalassemia patients will experience symptoms of anemia such as dizziness, pale face, frequent fatigue, sleeping difficulty, loss of appetite and recurring infection.

Thalassemia is caused by the bone marrow failure in properly forming proteins required to produce hemoglobin. Hemoglobin is an iron-rich protein in the erythrocytes, with vital function to transport oxygen from the lungs to the whole body for energy. When there are less or no hemoglobin produced, the supply of energy required for the body to function cannot be fulfilled, causing disturbances to the body' s functions and leading to inability to perform its normal activities.

Based on the clinical symptoms and severity, thalassemia is divided into:

Thalassemia Major

Patients suffering from thalassemia major will commonly appear normal when born, but at the age of 3-18 months, the symptoms of anemia will start to appear. Other symptoms such as faster heartbeat and Cooley' s facies may also appear. Cooley' s facies is a distinctive characteristic of thalassemia major, i.e. depressed bridge of the nose and protruded bone cheek as the result of the excessive hard work of bone marrow in addressing hemoglobin deficiency.

Patients of thalassemia major commonly require blood transfusion and lifetime medication. In the absence of good care, patients of thalassemia major may survive up to roughly 1-8 months.

Thalassemia Minor/Trait

Patients suffering from thalassemia minor or trait appear just like a healthy, normal person does and do not require blood transfusion, but they are carrying thalassemia trait that may be inherited to their children. As such, patients of thalassemia minor are often referred to as thalassemia carriers.

Thalassemia Intermedia

Thalassemia intermedia is a condition situated between thalassemia major and minor. Patients of thalassemia intermedia may require periodic blood transfusion, but they can survive life up until adulthood.

How is thalassemia inherited?

If one of the parents is carrying thalassemia traits, there is a 50% chance that their children are thalassemia carriers, and none of their children will be born with thalassemia major. If both of the parents are carrying thalassemia traits, there is a 50% chance that their children are thalassemia carriers, and a 25% chance that their children will be born with thalassemia major.

Why is early detection of thalassemia important?

Thalassemia is a non-curable disease. The common medication and treatment in the form of blood transfusion is given only to alleviate the symptoms and maintain the minimum level of hemoglobin in the blood.

In terms of appearance, individuals with thalassemia traits are no different from those without the only way to identify people carrying thalassemia traits is through laboratory test.

Therefore, several initial tests to identify thalassemia trait carriers, especially before marriage, are the effective measures to prevent the spreading of thalassemia. You can take one of them at Prodia, namely Premarital Check-Up.