Methaemoglobinaemia
What is Methaemoglobinaemia?
Methaemoglobinaemia is an inherited, or in some cases acquired, condition caused by a genetic defect resulting in an inability to properly breakdown a pigment called methemoglobin in the blood.
Methemoglobin pigment is responsible for transporting oxygen around the body. If a person has an inability to break down this pigment, the oxygen cannot be moved around the body, resulting in a lack of oxygen in the parts of the body that rely on oxygen to function properly.
Methaemoglobinaemia is a rare condition that affects an estimated one in every 1 million to 2 million individuals worldwide.
Symptoms of Methaemoglobinaemia
The primary symptom of this condition is cyanosis, which is a bluish discoloration of the skin, lips, and nail beds caused by lack of oxygen in the blood. Other symptoms that can occur in people with this condition include fatigue, dizziness, headache, confusion, and shortness of breath.
Diagnosing Methaemoglobinaemia
Diagnosis of this condition is usually made based on symptoms, physical examination, and lab tests. A blood test can be used to detect the build-up of methemoglobin, and genetic testing can be used to identify the genetic mutation responsible for the condition.
Treating Methaemoglobinaemia
Treatment for this condition focuses on managing the symptoms and preventing further buildup of methemoglobin. Treatment options include:
- Supplemental oxygen therapy to improve oxygen levels in the blood
- Medication to reduce the production of methemoglobin
- Vitamin therapy to help reduce the symptoms of anemia
- Blood transfusions to remove the methemoglobin from the blood
- Gene therapy to correct the genetic defect causing the condition