Hemoglobin E TraitHemoglobin E Trait - Causes, Symptoms, Diagnosis and Treatment
Hemoglobin E trait is a hereditary blood disorder, which means it is inherited from your parents.
Facts about hemoglobin E trait
Hemoglobin E trait is rare. It occurs most frequently among people of Southeast Asian descent, such as people with a Thai, Cambodian, Vietnamese, and Laotian background. It can also occur in people of Turkish, Asiatic Indian, Chinese, and Filipino descent.
Types of hemoglobin E trait
If you inherited the hemoglobin E mutation from just one 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, such as:
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 have an irregular shape.
Hemoglobin E/thalassemia. In this variation of the disease, the hemoglobin E causes anemialike symptoms that can lead to more severe complications.
Hemoglobin sickle E disease. This is a milder form of the more commonly known sickle cell anemia.
Many people have no symptoms. Those with more severe hemoglobin E-related disorders may experience mild thalassemia, or anemialike symptoms, but even these are rare. When they do occur, they may include:
Shortness of breath
Jaundice, or a yellowing of the skin
Hemoglobin E trait is typically discovered in infants during newborn screenings. The specific test is known as a mean corpuscular volume test and is part of the complete blood count test. The testing might also include elements such as 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.
In most cases, hemoglobin E disease is benign, and no treatment is needed. Sometimes a doctor might prescribe folic acid supplements to help with red blood cell count and the symptoms of anemia.
Because hemoglobin E trait and the related diseases are hereditary, the only thing that you can do to avoid the spread of it is to not 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.