CMH

CMH or Congenital Methemoglobinemia is a rare genetic disorder that affects the body's ability to produce normal hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen from the lungs to the body's tissues and returns carbon dioxide from the tissues back to the lungs. In people with congenital methemoglobinemia, hemoglobin is unable to release its oxygen to the body's tissues, leading to cyanosis, a condition characterized by a bluish color of the skin, lips, and nail beds.

Causes

Congenital methemoglobinemia is caused by mutations in the CYB5R3 gene. This gene provides instructions for making an enzyme called cytochrome b5 reductase, which is involved in controlling the amount of methemoglobin in the body. Mutations in the CYB5R3 gene reduce the activity of cytochrome b5 reductase, leading to an excess of methemoglobin.

Symptoms

The symptoms of congenital methemoglobinemia can vary greatly from person to person. Some people may have no symptoms, while others may experience severe symptoms such as shortness of breath, fatigue, and cyanosis. Other symptoms can include headache, dizziness, and a rapid heart rate.

Diagnosis

Diagnosis of congenital methemoglobinemia is based on the presence of cyanosis that does not improve with oxygen therapy. Blood tests can also be used to measure the level of methemoglobin in the blood. Genetic testing can confirm the diagnosis.

Treatment

Treatment for congenital methemoglobinemia typically involves medications to reduce the level of methemoglobin in the blood. In severe cases, a blood transfusion may be necessary.

See also

• Hemoglobin
• Cyanosis
• Genetic disorder
• Blood transfusion

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