Hemoglobin E Trait
What is hemoglobin E Trait?Hemoglobin E trait is an inherited blood disorder. That means it is passed down through your parent’s genes. It occurs most often in people of Southeast Asian descent.
What causes hemoglobin E trait?
Hemoglobin E trait is caused by a genetic defect that is passed down from one or both of your parents. If you inherited the defect from just one of your parents, you likely won't have any symptoms. But, you are a carrier of the disease. That means you run the risk of having children with mild to serious illnesses related to hemoglobin E.
If you inherited the defect from both parents, it can cause complications, such as:
- Hemoglobin E disease. This causes a slight defect in the hemoglobin beta, or HBB, gene. It results in small and irregularly shaped red blood cells.
- Hemoglobin E/thalassemia. In this disease, the hemoglobin E causes anemia symptoms.
- Hemoglobin sickle E disease. This is a milder form of sickle cell anemia.
Who is at risk for hemoglobin E trait?Hemoglobin E trait is rare. It only occurs if you inherit the hemoglobin E defect from one or both of your parents. It occurs most often among people with a Thai, Cambodian, Vietnamese, or Laotian background. It can also occur in people of Turkish, Asiatic Indian, Chinese, and Filipino descent.
What are the symptoms of hemoglobin E trait?
Many people have no symptoms. Those with more severe hemoglobin E related disorders may have mild thalassemia, or anemia-like symptoms. But, even these are rare. When they do occur, they may include:
- Growth failure
- Shortness of breath
- Jaundice, or a yellowing of the skin
How is hemoglobin E trait diagnosed?
Hemoglobin E trait is most often found during routine newborn screenings. The mean corpuscular volume test might be low 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 done.
If you are a known carrier of hemoglobin E trait, testing is urged before you have children. If your partner is also a carrier, you risk having a child with hemoglobin E or related diseases.
How is hemoglobin E trait treated?In most cases, no treatment is needed for hemoglobin E disease. Sometimes you may be prescribed folic acid supplements. They help with red blood cell count and the symptoms of anemia.
What are the complications of hemoglobin E trait?Many people with hemoglobin E trait have no symptoms. Some may have complications of anemia. If you and your partner both have hemoglobin E trait, you risk having a child with hemoglobin E or related disease.
What can I do to prevent hemoglobin E trait?Because hemoglobin E trait and related diseases are inherited, 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 talk with your partner and healthcare provider about.
How to manage hemoglobin E trait?Most people with hemoglobin E trait and hemoglobin E disease will live a healthy, normal life. Other than family planning, little management of the condition is needed.
Key points about hemoglobin E trait
- Hemoglobin E trait an inherited blood disorder. This means it is passed down from your parents.
- Hemoglobin E trait is caused by a genetic defect and is rare.
- Many people with hemoglobin E trait have no symptoms.
- Most people with hemoglobin E trait and hemoglobin E disease will live a healthy, normal life.
Tips to help you get the most from a visit to your healthcare provider:
- Know the reason for your visit and what you want to happen.
- Before your visit, write down questions you want answered.
- Bring someone with you to help you ask questions and remember what your provider tells you.
- At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you.
- Know why a new medicine or treatment is prescribed, and how it will help you. Also know what the side effects are.
- Ask if your condition can be treated in other ways.
- Know why a test or procedure is recommended and what the results could mean.
- Know what to expect if you do not take the medicine or have the test or procedure.
- If you have a follow-up appointment, write down the date, time, and purpose for that visit.
- Know how you can contact your provider if you have questions.
March 22, 2017
Introduction to hemoglobin mutations. UpToDate, Variant Sickle Cell Syndromes. UpToDate
Freeborn, Donna, PhD, CNM, FNP,Gersten, Todd, MD