A person holding their stomach.
Some common signs of alpha thalassemia trait are abdominal pain and swelling and irritability.

What is the Alpha Thalassemia Trait?

Thalassemia refers to various blood disorders that impact the way the body produces hemoglobin. This usually happens in one of two ways. So, let’s compare alpha thalassemia vs. beta thalassemia. With the alpha thalassemia trait, the body struggles to create alpha-globin. Meanwhile, beta thalassemia is when the body has problems producing beta-globin.

In this article, we are going to dive into the signs related to the alpha thalassemia trait. Typically, a mature adult has four genes relating to alpha-globin. Yet, if one or more of these genes is abnormal or defective, alpha thalassemia can occur. So, what should you watch out for? Let’s take a look.

1. Anemia

Anemia happens when the body fails to produce a sufficient amount of red blood cells or hemoglobin. This limits the amount of oxygen your body’s cells and tissues receive, which can lead to fatigue, dizziness, shortness of breath and weakness.

As an adult, alpha thalassemia may end up getting diagnosed after the discovery of anemia through routine blood tests.

2. Gallstones

Surprisingly, gallstones are one of the most common symptoms of thalassemia. In individuals with thalassemia, red blood cells are often destroyed faster than they are made. When the red blood cells are destroyed, they release bilirubin. When bilirubin builds up, gallstones may result. However, gallstones may also occur due to too much cholesterol or insufficient bile salts.

3. Irritability

Since the body’s cells are not getting adequate ingredients (specifically oxygen) to produce energy, with alpha thalassemia, your body is often lacking the energy it needs to perform optimally. This can lead to irritability or crankiness. You may find you are moodier than the average person, which frequently goes hand-in-hand with fatigue or exhaustion.

4. Iron Overload

About 70% of the body’s iron is found in hemoglobin and myoglobin. With a lack of hemoglobin due to alpha thalassemia, iron can quickly build up in the bloodstream.

Iron overload leads the body to store more iron than it needs, which results in iron being found in the liver, heart and pancreas. This can then lead to liver problems, heart issues, organ failure and more. This is why it is important to avoid iron supplements if you suspect you have alpha thalassemia.

5. Abdominal Swelling

Since alpha thalassemia causes red blood cells to die faster, this causes your spleen to work overtime since it deals with these dead red blood cells. In turn, your spleen can become swollen and inflamed, leading to abdominal swelling and tenderness. In severe cases, the spleen is removed since it can increase the risk of infections and even reduce immunity.

6. Family History of Alpha Thalassemia

All in all, alpha thalassemia is a genetic disease inherited from your parents. Having a family history of alpha thalassemia increases your risk of developing this disease. If this is the case, it is important to get tested and determine if you carry the trait or have this condition.

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Alpha Thalassemia Management and Treatment

Typically, the severity of your alpha thalassemia diagnosis will determine the appropriate type of treatment. If you have one mutated gene relating to the alpha hemoglobin chain, you will not have any signs or symptoms but will be a carrier. If you have two mutated genes relating to the alpha hemoglobin chain, you will have mild symptoms. This type is often referred to as alpha thalassemia trait. Three mutated genes indicate a more severe case of alpha thalassemia.

Generally, mild forms of the disease do not require any treatment. However, for more severe forms of alpha thalassemia, these treatment protocols may be considered by your doctor.

  • Blood transfusion. These are often performed regularly to maintain quality of life and maintain health. Blood transfusions involve receiving blood from matching blood donors. However, this may lead to a buildup of iron. Eventually, certain medications or strategies may be implemented to prevent iron overload.
  • Stem cell transplant (bone marrow transplant). Bone marrow produces red blood cells. Thus, a transplant can provide a cure to those with severe forms of thalassemia. However, this is only performed in very severe cases, since a stem cell transplant comes with many risks.

As a carrier of the alpha thalassemia trait, you may want to consider all your options when starting a family. Genetic counseling and exploring other avenues can help you make a decision regarding your family and future. If you have children with alpha thalassemia, there are also support groups to help your family manage and deal with their condition.

Additionally, those with alpha thalassemia should ensure they eat a healthy alpha thalassemia diet, including foods that support red blood cell health, and avoid infections or illness as much as possible. For instance, someone with alpha thalassemia should ensure they get the flu shot each year.

Overall, you can lead a relatively normal life with alpha thalassemia, depending on the severity and your lifestyle. Take the proper precautions. Treat your body right, and get the proper advice from your doctor and a specialist who knows you and your health history best.