Hemoglobin E disease

How is hemoglobin E disease diagnosed?

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.

Last updated on 05-01-20

How might hemoglobin E disease be treated?

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.

Last updated on 05-01-20

Newborn Screening

Hemoglobin E disease

The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.

Last updated on 04-27-20

Name: European Network for Rare and Congenital Anaemias (ENERCA) University of Barcelona Red Cell Pathology Unit
C/Villarroel, 170 - 08036 Barcelona
España
Phone: (34) 93 451 5950 Fax : (34) 93 227 1764 Email: enerca@enerca.org Url: http://www.enerca.org

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