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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Hemoglobin E disease


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Overview

What is hemoglobin E disease?

What are the signs and symptoms of hemoglobin E disease?

How is hemoglobin E disease diagnosed?

How might hemoglobin E disease be treated?

What is hemoglobin E disease?

Hemoglobin E (HbE) disease is an inherited blood disorder characterized by an abnormal form of hemoglobin, called hemoglobin E. People with this condition have red blood cells that are smaller than normal and have an irregular shape. HbE disease is thought to be a benign condition. It is inherited in an autosomal recessive pattern and is caused by a particular mutation in the HBB gene. The mutation that causes hemoglobin E disease has the highest frequency among people of Southeast Asian heritage (Cambodian, Laotian, Vietnamese and Thai). However, it is also found in people of Chinese, Filipino, Asiatic Indian, and Turkish descent.[1]
Last updated: 2/21/2014

What are the signs and symptoms of hemoglobin E disease?

Affected individuals can develop mild thalassemia in the first few months of life. While mild splenomegaly and/or anemia can occur, it is generally considered a benign condition.[1][2]

When a person inherits a gene mutation from one of their parents, they are said to be a carrier or have hemoglobin trait. These individuals are typically asymptomatic, although they may have small red blood cells. However, carriers may be at risk to have children with hemoglobin E/thalassemia (which is similar to thalassemia) or hemoglobin sickle E disease (milder form of sickle cell anemia). Both of these conditions are much more severe than hemoglobin E disease. They are are also inherited in an autosomal recessive fashion.[1][2]
Last updated: 2/21/2014

How is hemoglobin E disease diagnosed?

Many babies are picked up through state newborn screening programs. A diagnosis is usually made by looking at the red blood cells by doing a Mean Corpuscular Volume (MCV) test, which is commonly part of a Complete Blood Count (CBC) test. More specialized tests, such as a hemoglobin electrophoresis and iron studies might be done. These tests indicate whether a person has different types of hemoglobin. Genetic testing of the HBB gene can also be done to confirm a diagnosis.[1]
Last updated: 2/21/2014

How might hemoglobin E disease be treated?

Treatment is usually not necessary. Folic acid supplements may be prescribed to help the body produce normal red blood cells and improve symptoms of anemia. People with hemoglobin E disease can expect to lead a normal life.[1][2]
Last updated: 2/21/2014

References
  1. Bachir D & Galacteros F. Hemoglobin E. Orphanet. November 2004; http://www.orpha.net/data/patho/Pro/en/HemoglobinEDisease-FRenPro3654.pdf. Accessed 2/21/2014.
  2. Parents' Guide to Hemoglobin E Disease. Utah Department of Health. May 23, 2012; http://health.utah.gov/newbornscreening/Disorders/HB/Hb_E_Disease_EE/FactSheet_Family_HbEE_En.pdf. Accessed 2/21/2014.


See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.