Haemoglobin-E Diseases

Hemoglobin E disease

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Categories:

Blood Diseases; Congenital and Genetic Diseases; Newborn Screening

This disease is grouped under:

Hemoglobinopathy

Summary

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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. It is inherited in an autosomal recessive manner and is caused by a mutation in the HBB gene. The mutation that causes hemoglobin E disease primarily occurs in Southeast Asian populations, and rarely in Chinese populations. Most people with HbE disease do not need any treatment.^[1]^[2]

Symptoms

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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).^[1]^[3]^[4]

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Diagnosis

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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.^[1]

Newborn Screening

An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.
An Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn screening result. Algorithms are developed by experts in collaboration with the American College of Medical Genetics.
Baby’s First Test is the nation’s newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
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.

Treatment

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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.^[1]^[5]

Organizations

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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

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

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Learn More

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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The Merck Manual provides information on this condition for patients and caregivers.

In-Depth Information

The Merck Manual for health care professionals provides information on Hemoglobin E disease.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

GARD Answers

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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References

Bachir D & Galacteros F. Hemoglobin E. Orphanet Encyclopedia. November, 2004; http://www.orpha.net/data/patho/Pro/en/HemoglobinEDisease-FRenPro3654.pdf.
Evan M. Braunstein. Hemoglobin E Disease. Merck Manual. January, 2017; http://www.merckmanuals.com/professional/hematology-and-oncology/anemias-caused-by-hemolysis/hemoglobin-e-disease.
Stanley L Schrier. Introduction to hemoglobin mutations. UpToDate. Waltham, MA: UpToDate; July, 2015;
Vichinsky E. Hemoglobin e syndromes. Hematology Am Soc Hematol Educ Program.. 2007;
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.