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.

Thalassemia Causes

Thalassemia is the abnormal production of hemoglobin. Generally, this disorder is considered a hereditary condition and there are no known environmental factors behind the prevalence of thalassemia, though environment can play a role in the severity of symptoms. While there are a number of biological factors behind why someone might develop thalassemia, the most frequently observed reason is deletions of portions of the beta-globin gene. When parts of the gene are deleted, this opens up the possibility of dysfunctional hemoglobin production. While thalassemia is considered harmful, the evolutionary origins of this disorder are frequently discussed. It appears as if the genes behind thalassemia only produce the symptom if one receives the genes through both parents. People who only receive genetic defects through one side either show no symptoms or very mild issues. In fact, it may even confer benefits to people under certain conditions.

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.

Thalassemia Prevention

The most important tools in preventing thalassemia are diagnosis and genetic screening. While the disease is hereditary, steps can be taken in order to reduce the number of births of children with thalassemia. The most important step to take is to test for factors that may produce the condition. An example of this is sort of screening can be seen in countries such as Cyprus and Iran. In these countries, people must receive genetic screening before every marriage. If red cell indices reveal a lack of hemoglobin in the man or woman, they are not allowed to marry. Thanks to these policies, the rates of thalassemia within the general population have dropped well to roughly 0%. Awareness campaigns are also being produced that encourage people to receive genetic screening if they believe their child is at risk of having thalassemia even in countries without mandatory genetic screening. These campaigns are effective in reducing the risk as well.