Hemoglobin M disease; Erythrocyte reductase deficiency; Generalized reductase deficiency

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
• Mental retardation
• 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

Methemoglobinemia can be diagnosed with a blood test.

A baby with this condition will have bluish skin color (cyanosis) at birth or shortly thereafter. Arterial blood gases and pulse oximetry results will be normal, making the condition challenging to diagnose.

Images

Blood cells

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Methemoglobinemia Overview

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Methemoglobinemia Treatment

Review Date: 08/13/2009
Reviewed By: Linda Vorvick, MD, Medical Director, MEDEX Northwest Division of Physician Assistant Studies, University of Washington School of Medicine; and Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)