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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Hemoglobin E disease


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Symptoms


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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

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.