Symptoms of Thalassemia: Why Some People Need Frequent Transfusions

For many people, anemia is simply a temporary condition they can easily treat with supplements or a healthy diet. If you have thalassemia, however, anemia may feel like a constant issue. What are the symptoms of thalassemia, and how can you manage it? Find out here.

Thalassemia, Defined 

Thalassemia is an inherited blood disorder occurring when the body has trouble making enough functional hemoglobin, the protein in the red blood cells that carries oxygen.

Having inadequate hemoglobin means your red blood cells do not function well and only last for short periods. In other words, you have fewer healthy red blood cells.

Note that an inadequate red blood cell count negatively affects oxygen delivery throughout the body. Without enough oxygen, you may feel tired and short of breath.

Types of Thalassemia

Before we discuss the symptoms of thalassemia, let’s first talk about its types, which could either point to the part of hemoglobin affected or the severity of the symptoms.

You see, hemoglobin is made up of two proteins: alpha and beta. If there’s an issue in the gene responsible for alpha protein, then it’s alpha thalassemia. Likewise, if the issue lies within the gene making the beta protein, it’s called beta thalassemia.

Now, alpha and beta can be further subdivided into thalassemia minor and major. Inheriting a gene defect from both parents leads to thalassemia major; inheriting a gene defect from only one parent results in thalassemia minor.

If you hear the term intermedia, it refers to a type of thalassemia that’s somewhere between minor and major.  

Often, people with thalassemia minor have mild symptoms or are only carriers: they have the faulty gene, but they don’t have symptoms. On the other hand, individuals with thalassemia major may experience severe symptoms.

Signs and Symptoms of Thalassemia

The symptoms of thalassemia vary depending on the type and severity of the condition.

No Symptoms

Some people with thalassemia minor, especially alpha thalassemia minor, are only silent carriers. This is because the lack of alpha protein is so minor that hemoglobins can still work well.

Mild Symptoms

Similarly, people with thalassemia minor may also have mild symptoms or mild anemia. Note that mild anemia caused by alpha thalassemia minor may be mistaken for iron-deficiency anemia.

Mild to Moderate Anemia and Other Symptoms

Other people may also experience mild to moderate anemia along with other symptoms, particularly if they have beta thalassemia intermedia. Some of the symptoms include:

• Bone problems
• Enlarged spleen
• Slowed growth or delayed puberty

Severe Anemia and Other Symptoms

Severe symptoms of thalassemia may occur in people with beta thalassemia major within the first two years of their life. These symptoms include:

• Bone problems
• Dark urine
• Enlarged spleen, heart, or liver
• Jaundice
• Pale and listless appearance
• Poor appetite
• Slowed growth or delayed puberty

Treatment

Treatment largely depends on the type and symptoms of thalassemia. If you’re a silent carrier or only have mild symptoms, chances are you don’t need treatment.

For moderate or severe symptoms, however, the doctor may recommend the following:

• Frequent blood transfusions, possibly within every few weeks. Please note that frequent transfusion may cause iron accumulation, which may lead to heart or liver problems.
• Iron chelation therapy, which uses medicines to remove excess iron in the body.
• Folic acid supplements to help you build healthy red blood cells.

Key Takeaways

Thalassemia occurs when you have difficulty making hemoglobin, the oxygen-carrying protein found in red blood cells. The symptoms of thalassemia depend on the type and severity of the condition. You can be a carrier with no symptoms, experience mild symptoms, or develop severe anemia along with other health concerns.

If you suspect anemia, particularly the moderate to severe type, please get in touch with your doctor as soon as possible.

Learn more about Blood Disorders here.