Thalassemia (In general)

What is Thalassemia?

Thalassemia is a rare condition that affects a person’s blood in that there are fewer than normal amounts of red blood cells and hemoglobin. It is an inherited disorder that can make it difficult to maintain sufficient oxygen levels. The two main types of thalassemia include alpha and beta thalassemia, meaning the patient’s hemoglobin does not produce enough of one or the other of these proteins. Additionally, these are broken down into subtypes based on the severity. Some types of the condition are more commonly seen in specific regions around the world.

Thalassemia happens when there is one or more mutations in the hemoglobin’s DNA. These abnormalities cause a disruption in normal hemoglobin production, resulting in reduced levels of oxygen being carried throughout the body. A person is more likely to experience the disorder if they have a family history or come from a certain ethnic background, including Middle Eastern, Greek, African, Asian, and Italian ancestry.

What are the Symptoms of Thalassemia?

Patients with thalassemia will experience different symptoms depending on the severity and type of thalassemia they have. These may include:

  • Fatigue
  • Paleness
  • Delayed growth
  • Weakness
  • Anemia
  • Shortness of breath
  • Failure to thrive
  • Jaundice
  • Too much iron in the blood
  • Deformities of the facial bones
  • Abdominal swelling
  • Dark urine

There are numerous possible complications associated with severe thalassemia, such as an increased risk of infection, enlarged spleen, bone deformities, and various heart issues.

How is Thalassemia Treated?

If the condition is mild, the patient may not require treatment. More severe cases might need regular stem cell transplants or blood transfusions, particularly after certain events like major surgery or pregnancy. In the event of an iron overload, a drug called deferasirox help eliminate some of the excess iron. Patients can improve symptoms by doing their best to avoid infections and sticking to a healthy, well-balanced diet.