Rare Immunology News

Disease Profile

Hemoglobin E disease

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

All ages

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ICD-10

D58.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Categories

Blood Diseases; Congenital and Genetic Diseases; Newborn Screening

Summary

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

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]

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.[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

    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

    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

      Learn more

      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.

          References

          1. Bachir D & Galacteros F. Hemoglobin E. Orphanet Encyclopedia. November, 2004; https://www.orpha.net/data/patho/Pro/en/HemoglobinEDisease-FRenPro3654.pdf.
          2. Evan M. Braunstein. Hemoglobin E Disease. Merck Manual. January, 2017; https://www.merckmanuals.com/professional/hematology-and-oncology/anemias-caused-by-hemolysis/hemoglobin-e-disease.
          3. Stanley L Schrier. Introduction to hemoglobin mutations. UpToDate. Waltham, MA: UpToDate; July, 2015;
          4. Vichinsky E. Hemoglobin e syndromes. Hematology Am Soc Hematol Educ Program.. 2007;
          5. Parents' Guide to Hemoglobin E Disease. Utah Department of Health. May 23, 2012; https://health.utah.gov/newbornscreening/Disorders/HB/Hb_E_Disease_EE/FactSheet_Family_HbEE_En.pdf.

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