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Hemoglobin M disease; Erythrocyte reductase deficiency; Generalized reductase deficiency
Symptoms of type 1 methemoglobinemia (erythrocyte reductase deficiency) include:
Symptoms of type 2 methemoglobinemia (generalized reductase deficiency) include:
Symptoms of hemoglobin M disease include:
Symptoms of acquired methemoglobinemia include:
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.
DeBaun MR, Vichinsky E. Hemoglobinopathies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, PA: Saunders Elsevier; 2007:chap 462.
Gregg XT, Prchal JT. Red blood cell enzymopathies. In: Hoffman R, Benz EJ Jr., Shattil SS, eds. Hematology: Basic Principles and Practice. 5th ed. Philadelphia, PA: Elsevier Churchill Livingston; 2008:chap 45.
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