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    Methemoglobinemia

    Hemoglobin M disease; Erythrocyte reductase deficiency; Generalized reductase deficiency

    Methemoglobinemia is a blood disorder in which an abnormal amount of methemoglobin -- a form of hemoglobin -- is produced. Hemoglobin is the molecule in red blood cells that distributes oxygen to the body. Methemoglobin cannot release oxygen.

    In methemoglobinemia, the hemoglobin is unable to release oxygen effectively to body tissues.

    Causes

    Methemoglobinemia may be passed down through families (inherited or congenital). Or, it may be caused by exposure to certain drugs, chemicals, or foods (acquired).

    There are two forms of inherited methemoglobinemia. The first form is passed on by both parents. The parents usually do not have the condition themselves, but they carry the gene that causes the condition. It occurs when there is a problem with an enzyme called cytochrome b5 reductase.

    There are two types of this form of methemoglobinemia:

    • Type 1 (also called erythrocyte reductase deficiency) occurs when red blood cells lack the enzyme.
    • Type 2 (also called generalized reductase deficiency) occurs when the enzyme doesn't work anywhere in the body.

    The second form of inherited methemoglobinemia is called hemoglobin M disease. It is caused by defects in the hemoglobin molecule itself. Only one parent needs to pass on the abnormal gene for the child to inherit the disease.

    Acquired methemoglobinemia is more common than the inherited forms. It occurs in some people after they are exposed to certain chemicals and drugs, including:

    • Anesthetics such as benzocaine
    • Benzene
    • Certain antibiotics (including dapsone and chloroquine)
    • Nitrites (used as additives to prevent meat from spoiling)

    The condition may also occur in infants who are very ill or who are fed too many vegetables containing nitrates (such as beets).

    Symptoms

    Symptoms of type 1 methemoglobinemia (erythrocyte reductase deficiency) include:

    • Bluish coloring of the skin

    Symptoms of type 2 methemoglobinemia (generalized reductase deficiency) include:

    • Developmental delay
    • Failure to thrive
    • Intellectual disability
    • Seizures

    Symptoms of hemoglobin M disease include:

    • Bluish coloring of the skin

    Symptoms of acquired methemoglobinemia include:

    • Bluish coloring of the skin
    • Headache
    • Fatigue
    • Shortness of breath
    • Lack of energy

    Exams and Tests

    Methemoglobinemia can be diagnosed with a blood test.

    A baby with this condition will have a bluish skin color (cyanosis) at birth or shortly afterward. Arterial blood gases and pulse oximetry tests may be done.

    Treatment

    A medicine called methylene blue is used to treat severe methemoglobinemia. Note: Methylene blue may be dangerous in patients who have or may be at risk for a blood disease called G6PD deficiency, and should not be used. If you or your child has G6PD deficiency, always tell your health care provider before receiving treatment.

    Ascorbic acid may also be used to reduce the level of methemoglobin.

    Alternative treatments include hyperbaric oxygen therapy and exchange transfusions.

    In most cases of mild acquired methemoglobinemia, no treatment is needed. However, you should avoid the medicine or chemical that caused the problem. Severe cases may need treatment, which may include a blood transfusion.

    Outlook (Prognosis)

    People with type 1 methemoglobinemia and hemoglobin M disease usually do well. Type 2 methemoglobinemia is much more serious, and usually causes death within the first few years of life.

    People with acquired methemoglobinemia usually do very well once the drug, food, or chemical that caused the problem is identified and avoided.

    Possible Complications

    • Shock
    • Seizures
    • Death

    When to Contact a Medical Professional

    Call your health care provider if you have a family history of methemoglobinemia and you develop symptoms of this disorder.

    Call your health care provider or emergency services (911) immediately if you have severe shortness of breath.

    Prevention

    Genetic counseling is recommended for couples with a family history of methemoglobinemia who are considering having children.

    References

    DeBaun MR, Frei-Jones M, Vichinsky E. Hereditary methemoglobinemia. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 456.7.

    Fernandez-Frackelton M, Bocock J. Cyanosis. In: Marx JA, Hockberger RS, Walls RM, et al, eds. Rosen's Emergency Medicine: Concepts and Clinical Practice. 7th ed. Philadelphia, Pa: Mosby Elsevier; 2009:chap 29.

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    • Blood cells

      illustration

      • Blood cells

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      Tests for Methemoglobinemia

        Review Date: 9/20/2013

        Reviewed By: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.

        The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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