Is it True That Thalassemia is a Hereditary Disease?

Sahabat Hermina, thalassemia is an inherited blood disorder in which the body produces hemoglobin which is not normal. Hemoglobin is the protein molecule in red blood cells that carries oxygen. This disruption in hemoglobin results in excessive breakdown of red blood cells leading to anemia. Anemia is a condition in which the body does not have a sufficient number of normal red blood cells. Thalassemia is a genetic disease, that is, at least one of the sufferer's parents carries an abnormality due to certain genetic mutations.

The form of thalassemia has different subtypes where the form will affect the severity of symptoms. In alpha-thalassemia, the severity depends on the number of gene mutations inherited by the parents. The more mutated genes, the more severe the thalassemia. Whereas in beta-thalassemia, the severity of thalassemia depends on which part of the hemoglobin molecule is affected. 

Then, what are the signs and symptoms of thalassemia?

• Easily tired.
• Pale or yellowish skin.
• Deformity or irregular bone structure in the face.
• Slow growth

Some babies show signs and symptoms of thalassemia at birth and generally begin to show it by the age of two.

What Causes Thalassemia?

Hemoglobin consists of four protein chains, two alpha globin chains and two beta globin chains. Each chain, both alpha and beta, contains information on the genes inherited from the parents. The gene can be likened to a program that functions to control each chain, then the result is hemoglobin in children. If one of these genes is damaged or missing, the offspring has a higher chance of developing thalassemia. In thalassemia, the production of alpha or beta chains is reduced, resulting in alpha-thalassemia or beta-thalassemia. To be precise, thalassemia is caused by mutations in the DNA of cells that make hemoglobin or a substance in red blood cells throughout the body passed from parents to children.

Complications Caused by Thalassemia

• Advantages of iron

People with thalassemia can get too much iron in their bodies, either from illness or from frequent blood transfusions. Too much iron can cause damage to the heart, liver and endocrine system which includes the hormone-producing glands that regulate processes throughout the body.

How to Prevent Thalassemia?

In most cases, thalassemia cannot be prevented. However, prevention can be done by:

• Assistance with reproductive technology

If a person has thalassemia, there is a form of assisted reproductive technology diagnosis that screens embryos at an early stage for genetic mutations combined with in vitro fertilization. This can help parents who have thalassemia or who carry the defective hemoglobin gene have healthy babies.

• Genetic testing

Genetic testing can reveal whether a person carries the gene. This information can make it easier to plan a pregnancy.

How is Thalassemia Treated?

Some of the treatments include:

• Blood transfusion.
• Bone marrow transplant.
• Drugs and supplements.
• Possible surgery to remove the spleen or gallbladder.

Well, if you want to get more information regarding thalassemia, you can consult with a Sub-Hemato-oncology Pediatrician at Hermina Jatinegara Hospital. Stay healthy.