Methemoglobinemia

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Methemoglobinemia

• In patients with type2 congenital cytochrome b5 reductase deficiency: mental retardation, developmental delay, failure to thrive. They may also have seizures and other neurologic problems. Most die in infancy.
• In most patients with congenital methemoglobinemia (type 1): a bluish discoloration to the skin and mucous membranes.
• In patients with acquired methemoglobinemia from chemical or drug exposure: headache, fatigue, shortness of breath, lack of energy, and potentially shock, seizures, and death.

• Cyanosis (bluish skin color) with a normal level of oxygen in the blood (Pa02 on blood gas)
• Abnormal color optical spectrum of hemoglobin
• Incubation of blood with methylene blue is used to differentiate between cytochrome b5R deficiency and Hemoglobin M disease

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