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

It is caused by a mutation in the HBB gene.

Inheritance

It is inherited in an autosomal recessive manner.

Symptoms

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

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

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

• NIH info on Hemoglobin E disease

Hemoglobin E disease is a rare disease.

Hemoglobin E disease Resources
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