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(D74.0) Congenital methaemoglobinaemia
More details coming soon
4 596 in individuals diagnosis congenital methaemoglobinaemia confirmed
3 577 deaths with diagnosis congenital methaemoglobinaemia
78% mortality rate associated with the disease congenital methaemoglobinaemia
Diagnosis congenital methaemoglobinaemia is diagnosed Women are 24.98% more likely than Men
1 724
Men receive the diagnosis congenital methaemoglobinaemia
0 (less than 0.1%)Died from this diagnosis.
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2 872
Women receive the diagnosis congenital methaemoglobinaemia
3 577 (124.5 %)Died from this diagnosis.
Risk Group for the Disease congenital methaemoglobinaemia - Men and Women aged 0
In Men diagnosis is most often set at age 0-5, 20-24, 35-39, 50-59, 65-69
Less common in men the disease occurs at Age 5-19, 25-34, 40-49, 60-64, 70-95+Less common in women the disease occurs at Age 0-5, 10-14, 25-54, 70-74, 80-95+
In Women diagnosis is most often set at age 0-1, 5-9, 15-24, 55-69, 75-79
Disease Features congenital methaemoglobinaemia
Absence or low individual and public risk
Congenital methaemoglobinaemia - what does this mean
Congenital methaemoglobinaemia is an inherited disorder caused by a genetic mutation that results in the body having an abnormally low amount of healthy haemoglobin, leading to an inability to transport oxygen efficiently and causing symptoms such as fatigue, weakness, dizziness, and cyanosis.
What happens during the disease - congenital methaemoglobinaemia
Congenital methaemoglobinaemia is a genetic disorder caused by the deficiency of an enzyme called nicotinamide adenine dinucleotide-dependent methaemoglobin reductase. this enzyme is responsible for reducing the amount of methaemoglobin in the blood, so when it is deficient, more methaemoglobin is produced, resulting in an accumulation of methaemoglobin in the blood. this accumulation can lead to a variety of symptoms, including cyanosis, fatigue, and shortness of breath.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Physical Examination
- Complete Blood Count (CBC) Test
- Blood Smear Test
- Oxygen Saturation Test
- Methylene Blue Test
- Arterial Blood Gas Test
- Genetic Testing
- Electrocardiogram (ECG)
- Echocardiogram (ECHO)
Treatment and Medical Assistance
Main goal of the Treatment: Reduce the levels of methaemoglobin in the blood
- Administer methylene blue or other similar medications to reduce methaemoglobin levels
- Provide supplemental oxygen to reduce the severity of symptoms
- Implement lifestyle changes to reduce the risk of complications, such as avoiding exposure to certain chemicals and toxins
- Administer blood transfusions to replace the abnormal red blood cells
- Monitor and manage the levels of methaemoglobin in the blood with regular blood tests
- Provide regular check-ups to monitor for any signs of complications
- Provide counselling and support to help the patient cope with the disease
10 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Congenital methaemoglobinaemia - Prevention
Congenital methaemoglobinaemia can be prevented by avoiding exposure to potential environmental toxins such as nitrates, nitrites, and certain aniline dyes. additionally, pregnant women should avoid certain medications including sulfonamides and acetanilide, as these can increase the risk of this condition.