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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Hemoglobin E disease


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Tests & Diagnosis

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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

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.


Newborn Screening

  • An ACTion (ACT) sheet for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. ACT sheets are general guidelines that describe the short-term actions a health professional should follow in talking with the family and deciding the appropriate steps in the follow-up of an infant who has screened positive on a newborn screening test. Click on the link above to view the ACT sheet.
  • An Algorithm for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. Algorithms are general guidelines for healthcare providers outlining steps involved in determining the diagnosis of an infant who has screened positive on a newborn screening test. Click on the link above to view the Algorithm.
  • The Newborn Screening Coding and Terminology Guide created by the National Library of Medicine (NLM) at the National Institutes of Health (NIH) promotes and facilitates the use of electronic health data standards in recording and transmitting newborn screening test results. The Web site includes standard codes and terminology for newborn tests and conditions for which they screen, and links to related sites. Click on the link to view details for this condition.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.