Hemoglobin E disease
Hemoglobin E (HbE) disease is a mild, inherited blood disorder characterized by an abnormal form of hemoglobin, called hemoglobin E. People with this condition may have very mild anemia, but the condition typically does not cause any symptoms.
Cause[edit | edit source]
It is caused by a mutation in the HBB gene.
Inheritance[edit | edit source]
It is inherited in an autosomal recessive manner.
Symptoms[edit | edit source]
Most people with hemoglobin E (HbE) disease do not have any symptoms. Some people may have mild anemia and microcytosis (a red blood cell size smaller than the normal range)
Diagnosis[edit | edit source]
Many babies with HbE disease are first 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, if needed.
Treatment[edit | edit source]
Treatment for hemoglobin E disease is typically not needed. Folic acid supplements may be prescribed to help the body produce normal red blood cells if mild anemia causes symptoms. Most people do not have any symptoms. People with hemoglobin E disease can expect to lead a normal life.
NIH genetic and rare disease info[edit source]
Hemoglobin E disease is a rare disease.
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