What is Thalassemia: Symptoms and Causes

Thalassemia affects over 100,000 babies all over the world annually. Out of these, more than 30000 kids need regular blood transfusions to live a normal life and about 5500 newborns die perinatally because of thalassemia major. These staggering statistics from the World Health Organisation reveal the unfilled gap that needs to be filled with awareness about this genetic disorder. Let us have a look at what is thalassemia, how does it occur and how to identify it.

What is Thalassemia?

Thalassemia is an inherited blood disorder. It is caused because of an inadequate amount of hemoglobin in the body. Hemoglobin is a protein that functions as the oxygen carrier in the red blood cells. Without a sufficient amount of oxygen, the red blood cells get destroyed, resulting in mild or severe anemia. It is generally characterized by a feeling of fatigue.

There are two main types of thalassemia, minor and major; and they are further categorized into the following subtypes:

  • Beta thalassemia minor
  • Beta thalassemia major (Cooley’s anemia)
  • Alpha thalassemia minor
  • Beta thalassemia major

The prevalence of thalassemia is generally noticed in people living in the Middle East, Italy, Greece, South Asia, and Africa as they are more genetically predisposed to it.


The signs of thalassemia vary depending on its type. People with mild anemia show no serious symptoms, however, it is followed by the feeling of tiredness.

There are other common symptoms like:

  • Fatigue
  • Slow growth
  • Paleness in the appearance
  • Shortness of breath
  • Fragile bones
  • An enlarged spleen
  • Loss of appetite
  • Dark urine
  • Yellow skin (jaundice)


Thalassemia occurs when there is a defect in the production of hemoglobin in the body. Hemoglobin is made up of two proteins – alpha globin and beta globin.

When a person is suffering from thalassemia, there is a defect in the production of one of these proteins.

  • Alpha thalassemia is caused due to the dysfunction in the genes related to the alpha protein.
  • Beta thalassemia is caused due to the dysfunction in the genes related to the beta protein.

The intensity of both of these is categorized into the following:

  • Thalassemia minor, also sometimes known as thalassemia trait, arises when the child receives a faulty gene from only one parent. They are also known as carriers as they carry a faulty gene from a parent.
  • Thalassemia major happens when the child receives faulty genes from both parents.

Alpha thalassemia major can cause stillbirth and babies born with beta thalassemia major counter an elevated risk of severe anemia during the first year of their life.


Thalassemia is passed on to children from their biological parents. This means that in most of the cases, the disease cannot be prevented. Prenatal tests can help in identifying the existence of the disease. However, if you or your partner have thalassemia, the Centers for Disease Control and Prevention suggest consulting with a genetic counselor when you are planning a baby.

Original Article