Alpha Thalassemia: Symptoms, Causes, Treatments, and More

This inherited blood disorder usually requires vitamin supplementation. In many cases, people with alpha thalassemia may also need blood transfusions to manage symptoms and maintain good health.

Alpha thalassemia is a type of blood disorder in which your body doesn’t produce a normal, healthy amount of the protein hemoglobin. The condition is inherited, meaning it’s passed down from one or both parents.

Some forms of alpha thalassemia have no symptoms and require no treatment, while others can lead to problems such as anemia and require medications or even blood transfusions.

While there’s currently no cure for alpha thalassemia, proper treatment and a healthy lifestyle may help manage symptoms and allow many people with the disorder to have a normal life expectancy.

Alpha thalassemia is one of two main types of thalassemia. The other is beta thalassemia.

The difference between alpha and beta thalassemia is which genes are affected. Hemoglobin is made up of two alpha globin protein chains, which contain four genes (two from each parent) and two beta globin protein chains, which contain two genes (one from each parent).

When one or more of the alpha globin protein genes is missing or defective, you’ll have alpha thalassemia. Depending on the number of genes that are affected, a person could have any of four types of alpha thalassemia:

• Alpha thalassemia silent carrier: the mildest form, which occurs when only one gene is affected
• Alpha thalassemia carrier: an intermediate form of the disorder, which occurs when two genes are affected
• Hemoglobin H disease: occurs when three genes are affected and can lead to serious health problems, including moderate to severe anemia
• Alpha thalassemia major: occurs when all four genes are missing or defective and can be fatal or require frequent blood transfusions and other ongoing care for life

In all types of alpha thalassemia, the body produces lower-than-normal levels of hemoglobin, an iron-rich protein found in red blood cells. Hemoglobin carries oxygen to all the organs, muscles, and other tissue in the body.

If you have silent alpha thalassemia, you may have no symptoms and no complications.

Your blood may still contain enough oxygen to meet the body’s needs. However, moderate or severe cases of alpha thalassemia can lead to symptoms of anemia, including:

• fatigue
• headaches
• irregular heart rate
• pale skin
• shortness of breath
• weakness

Inheriting alpha thalassemia is the only known cause of the disorder, which is estimated to affect about 5% of the world’s population. Regions of the world where alpha thalassemia is most common include:

• Africa
• India
• Mediterranean region
• Middle East
• Southeast Asia

If you have silent alpha thalassemia, you may never know you have the condition unless a blood test turns up evidence of the inherited disorder.

However, most cases of moderate or severe alpha thalassemia are diagnosed in childhood because signs of anemia are present at an early age.

The first test that is usually performed is a complete blood count (CBC).

A CBC assesses the size and number of various blood cells, as well as hemoglobin levels. If thalassemia or other blood disorder is suspected, a follow-up test called a hemoglobin electrophoresis with A2 and F quantitation may be performed to detect what type of hemoglobin is present. This can help diagnose not just the presence of thalassemia but its type and severity.

Genetic testing may also be ordered to learn about what type of thalassemia may be present.

Many newborns undergo routine blood screenings shortly after birth, and hemoglobin levels are usually part of those screenings. If an initial blood test produces a suspicious or concerning evaluation of hemoglobin or red blood cell levels, follow-up testing should be done.

Treatment for alpha thalassemia depends on the disorder’s severity, as well as the person’s age and other health concerns. Your ability to handle certain medications and therapies. People who are asymptomatic may need no treatment.

Treatment often includes taking daily folic acid supplements. Folic acid is a B vitamin that plays a key role in red blood cell production and in the health of other cells, too.

Blood transfusions, which can build up healthy levels of hemoglobin in the body, are usually necessary for people who are even mildly symptomatic. Transfusions may be infrequent and administered only as needed, such as recovery from surgery or infection.

But for many people with alpha thalassemia, blood transfusions will always be an ongoing part of their treatment. Regular blood tests will determine how often blood transfusions are necessary.

Another common treatment for individuals with alpha thalassemia is chelation therapy. It’s a regular IV treatment of a medication called ethylenediaminetetraacetic acid (EDTA), which helps reduce iron overload in the bloodstream.

Newborns with alpha thalassemia major often die before or shortly after birth.

However, research suggests that babies who receive blood transfusions in utero have a greater chance of survival.

For many people with alpha thalassemia, a normal life expectancy is possible, but treatment and a healthy lifestyle will be essential.

The National Heart, Lung, and Blood Institute reports that both survival and quality of life have improved for people with alpha thalassemia, in part because getting blood transfusions is easier and because of advancements in treatment.

However, it’s important to understand that even with ongoing treatment, the blood disorder is a risk factor for a number of serious health problems, including:

• blood clots
• cardiac problems, including arrhythmias, heart attack, and heart failure
• dementia
• diabetes
• organ damage
• vitamin deficiencies and malnourishment

Alpha thalassemia is not a common blood disorder, but it’s one that can lead to serious health risks. If you have alpha thalassemia, there’s a good chance you could pass it down to your children. Talking with your doctor and a genetic counselor would be helpful when considering starting a family.

As with all chronic conditions, alpha thalassemia means working closely with your doctor to manage your symptoms and give you the best chance of maintaining a normal life expectancy and quality of life. It’s also important to share with your doctor information about any new or worsening symptoms or about any side effects to treatment.

Last medically reviewed on April 11, 2023