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Thalassemia : Symptoms, Causes and Treatment

Thalassemia is a blood disorder that is caused by genetic factors and causes proteins in red blood cells (hemoglobin) to not function normally.

The iron obtained by the body from food is used by the bone marrow to produce hemoglobin. Hemoglobin contained in red blood cells functions to deliver oxygen from the lungs to all members of the body. Patients with thalassemia have low hemoglobin levels, therefore the level of oxygen in the body of patients with thalassemia is also lower.

There are 2 types of thalassemia that occur, namely alpha and beta, where both of these types have a gene connection that determines the severity of this inherited disease. Beta thalassemia is a type that is more common.

Thalassemia can sometimes interfere with the activities that sufferers undergo due to weak oxygen levels in the body. Some things that sufferers can experience are fatigue, easily drowsiness, fainting, and difficulty breathing. In addition, thalassemia that is not handled properly can also cause complications such as heart failure, stunted growth, damage to organs, liver disorders, to death.

Symptoms of Thalassemia

The symptoms of thalassemia experienced by each person vary, depending on the severity and type of thalassemia suffered. To work normally, hemoglobin requires 2 alpha proteins and 2 beta proteins. Abnormalities in alpha proteins are called alpha thalassemia, and abnormalities in beta proteins are called beta thalassemia.

If there are many mutations in the genetic material that makes hemoglobin, then the thalassemia suffered will be severe. But if the mutations occur are few or limited, the symptoms can be lighter. For severe cases, blood transfusions will often be needed.

Following are some common symptoms of thalassemia:

  • Urine is cloudy.
  • The face looks pale.
  • Facial bone deformities.
  • The skin and the part of the eye that is white to yellow (jaundice / jaundice).
  • The inhibition of body growth.
  • The stomach becomes swollen (caused by an enlarged spleen or liver).
  • Lack of red blood cells or anemia (causing shortness of breath, body easily tired, and lethargic).


Newborns have hemoglobin that is different from normal hemoglobin, namely fetal hemoglobin. Normal hemoglobin will replace fetal hemoglobin after the baby is six months old. That is why most babies born with thalassemia will experience symptoms after they are over six months old.

Hemoglobin deficiency in children with severe thalassemia will make the body produce more bone marrow than usual. This is the way the body tries to overcome hemoglobin deficiency. This can cause unnatural bone growth or skeletal abnormalities.

In addition, to produce more hemoglobin, the body absorbs more iron from food consumed or through blood transfusions which can result in iron buildup in the body. This could potentially cause several problems as follows:

  • Body growth at puberty will be delayed or not occur at all due to disruption of the hormone system in the body.
  • More susceptible to infection due to damage to soft tissue, especially the spleen and liver

Causes of Thalassemia

Mutations in DNA that produce oxygen-carrying hemoglobin throughout the body are the cause of a person suffering from thalassemia. It is not known exactly what caused the mutation to occur. But this is thought to be related to genetic factors.

Cases of genetic diseases (such as thalassemia and sickle cell anemia) are more common in Asian countries, African-Americans, or the Middle East, as well as some countries such as Cyprus, Italy, or Greece.


Types of Thalassemia

The part of hemoglobin that is affected by mutations and the number of mutations inherited from parents determines the type of thalassemia suffered. Mutations can affect hemoglobin which consists of 2 alpha proteins and 2 beta proteins. Thalassemia suffered will be even worse if the gene that experiences mutations is increasing.

1. Alpha thalassemia

The alpha hemoglobin protein consists of four genes from two parents, each of which inherits two genes. The following is an explanation of the severity of symptoms based on the alpha thalassemia gene mutation:

  • Thalassemia symptoms do not appear if one gene has a mutation, but that person can reduce this disease to his child because he is the host or carrier of thalassemia.
  • Thalassemia symptoms that appear are only mild if two genes mutate, and this condition is called alpha minor thalassemia.
  • Thalassemia symptoms that appear are moderate to severe if three genes mutate. This condition is also called hemoglobin H.
  • The fetus will die or the newborn baby will die shortly after birth if four genes mutate. This condition is called alpha thalassemia major.


2. Beta Thalassemia

The hemoglobin beta protein consists of two genes derived from parents, each of which inherits one gene. The following is an explanation of the severity of symptoms based on the beta thalassemia gene mutation:

  • Thalassemia symptoms that appear are only mild if only one gene has a mutation, and is called a minor beta thalassemia.
  • Thalassemia symptoms that appear are moderate to severe if two genes mutate, and are called beta thalassemia major or Cooley anemia. Two genes that have mutations can also be called thalassemia beta intermedia if the symptoms experienced are milder. Usually babies who experience this condition look healthy at birth. But after two years old, new symptoms will appear.

Diagnosis of Thalassemia

Blood tests can be done to diagnose thalassemia. However, to find out the type of thalassemia suffered, you must do a DNA test. A person can be suspected of having thalassemia if his blood test shows results in the form of:

  • Pale red blood cells.
  • Low levels of red blood cells.
  • The shape and size of red blood cells are diverse.
  • Red blood cells are smaller than normal.

Blood tests can be used to evaluate hemoglobin and measure the amount of iron contained in the blood. In addition, this method can also be used to analyze DNA to find out whether a person has a hemoglobin gene that has a mutation.

An examination of a baby performed during pregnancy (antenatal examination) is useful to provide information needed by parents to prepare themselves. In addition, early examination also aims to determine the presence of other genetic diseases (eg sickle cell anemia).

Treatment of Thalassemia

Thalassemia is likely to be treated by cord blood transfusion and bone marrow transplantation. But both methods of treatment are not suitable for all people with thalassemia and can cause a number of complications.

Regular blood transfusions are needed for people with beta thalassemia, but this can result in accumulation of iron in the body and cause serious health problems. The treatment to get rid of excess iron in the body can be done with chelation therapy.

Bone Marrow Transplant

Treatment to cure thalassemia is likely to occur by doing a bone marrow transplant. Donated bone marrow from a donor that is proven to be suitable and healthy is used to replace the bone marrow that is affected by thalassemia and is useful for producing healthy blood cells.

Unfortunately bone marrow transplants are not always suitable and beneficial for every sufferer. Someone must find the right donor, and the risk of this procedure is quite serious. That is why the treatment of thalassemia with a bone marrow transplant is only done if the condition suffered is severe and must be discussed with the family. In addition, there is a risk that the donor's bone marrow does not match the body of the thalassemia sufferer who receives it, causing a reaction like the following:

  • The rash then blisters
  • Jaundice
  • Abdominal pain, diarrhea, and blood in the stool
  • Fever
  • Short to tight breath
  • Anemia
  • Blood clots until infection


Risk factors that determine the success rate of bone marrow transplants are severe liver damage, high body iron levels, and the size of the liver. The following is the possibility of success in children under the age of 16 who get a suitable bone marrow donor:

  • If he does not have the risk factors mentioned above, the chances of success are 90 percent and the chances of survival are 95 percent.
  • If he has less than three risk factors, the chances of success are more than 80 percent and the chances of survival are more than 85 percent.
  • If he has three risk factors, the chances of success are more than 55 percent and the chances of survival are less than 80 percent.


In addition to the above treatment methods, there are also a number of treatments that can be done to relieve thalassemia so as not to aggravate the patient's condition, such as hormone treatment for children with slow puberty or patients with thyroid gland problems, vaccinations and antibiotics to treat infections, treatment for osteoporosis, until gallstone surgery.

Complications of Thalassemia

The risk of developing complications of thalassemia can be reduced by conducting routine health checks. Some possible complications of thalassemia that can occur are hepatitis, osteoporosis, late puberty, and heart rhythm disorders.



Marengo-Rowe, AJ. (2007). The Thalassemias and Related Disorders. Proceedings (Baylor University. Medical Center).

Tidy, C. Patient (2018). Thalassaemia.

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Is a health and wellness enthusiast. In him free time, she loves to travel and taste different types of teas.