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Hemoglobin E Trait


Hemoglobin E Trait

Hemoglobin E trait is a hereditary blood disorder. This means it is inherited from your parents.

Facts about hemoglobin E trait

Mother holding infant.

Hemoglobin E trait is rare. It happens most often among people with a Thai, Cambodian, Vietnamese, or Laotian background. It can also happen in people of Turkish, Asiatic Indian, Chinese, and Filipino descent.

Types of hemoglobin E trait

If you inherited the hemoglobin E mutation from just 1 of your parents, you typically won't have any symptoms. But you are a carrier of the disease. That means you run the risk of having children with more serious illnesses related to hemoglobin E.

If you inherited hemoglobin E from both parents, however, it can cause additional complications, like:

  • Hemoglobin E disease. Hemoglobin E disease causes a slight mutation in the hemoglobin beta, or HBB, gene. The result of this mutation is that red blood cells may be smaller than normal. And they may have an irregular shape.

  • Hemoglobin E/thalassemia. In this variation of the disease, the hemoglobin E causes anemia and associated symptoms. These can lead to more severe complications.

  • Hemoglobin sickle E disease. This is a milder form of the more commonly known sickle cell anemia.  

Symptoms

Many people have no symptoms. Those with more severe hemoglobin E-related disorders may experience mild thalassemia, or anemia-like symptoms. But even these are rare. When they do happen, they may include:

  • Fatigue

  • Growth failure

  • Shortness of breath

  • Jaundice, or a yellowing of the skin

Diagnosis

Hemoglobin E trait is typically discovered in infants during newborn screenings. The specific test is known as a mean corpuscular volume test. It is part of the complete blood count test. The testing might also include elements like hemoglobin electrophoresis or iron studies. A genetic test of the HBB gene may also be performed.

If you are a known carrier of hemoglobin E trait, hemoglobin testing is recommended if you want to have children. If your partner is also a carrier, you risk having a child with hemoglobin E disease, hemoglobin E/thalassemia, or hemoglobin sickle E disease.

Treatment

In most cases, hemoglobin E disease is benign, and no treatment is needed. Sometimes a health care provider might prescribe folic acid supplements to help with red blood cell count and the symptoms of anemia.

Prevention

Because hemoglobin E trait and the related diseases are hereditary, the only thing that you can do to avoid the spread of it is not to have children with someone who is also a carrier of hemoglobin E. Of course, this is a highly personal decision that you'll want to discuss with your partner and health care provider.

Managing hemoglobin E trait

Most people with hemoglobin E trait and hemoglobin E disease will live a healthy, normal life. Other than appropriate family planning, little management of the condition is needed.