Glucose-6-phosphate dehydrogenase
Blood tests Favism diagnostics G-6-PDH G6P-DH from EDTA.
Glucose-6-phosphate dehydrogenase in erythrocytes. G-6-PHD in erythrocytes. (code G6PD from EDTA)
Broad bean disease or favism is an inherited disorder, localized on the X chromosome.
The nosebleeds fit that as well. You don't grow over this.
It is not an allergy but an enzyme defect. That is, your body does not produce enough of the G6PD enzymes to protect red blood cells from hemolysis (blood breakdown) when exposed to certain substances. There are at least 400 million people worldwide who have this inherited enzyme deficiency. There are different variants and classes depending on the gene mutation.
Carbohydrate metabolism Rare congenital metabolic disorders
To be requested in case of a suspected glucose-6-phosphate dehydrogenase deficiency in hemolytic anemia, aggravated in particular by infections, ingestion of food (broad beans) or after administration of medication (quinine, primaquine, chloroquine, sulfonamides, ASA, etc.).
The main culprits in food are the substances vicin and convicin. They are mainly found in legumes, with the highest concentrations in broad beans. The list of medications and extensive information can be consulted (in English and Italian) on the website http://www.g6pd.org.
Eating broad beans and a whole laundry list of medications (including aspirin) can trigger hemolysis. To date, there is no cure for this.
Glucose-6-phosphate dehydrogenase deficiency is the most common human enzyme deficiency in the world; an estimated 400 million people suffer from it. G6PD deficiency is also known as "favism," because G6PD deficient individuals are somatically allergic to fava beans.
G6PD deficiency is hereditary.
The determined activity gives an indication of the presence of the disease. Reticulocyte count should be considered in the assessment, as an increased reticulocyte count may result in incorrectly high values.
| Guideline values | 6.6 - 17.2 E / g Hb |
| Method | Photometry (PHOT) |
People with the genetic disorder favism lack or have insufficient amounts of the enzyme glucose-6-phosphate dehydrogenase, which plays a crucial role in protecting red blood cells from damage by certain substances in food.
The symptoms of favism can occur after eating certain foods or exposing the body to certain drugs or chemicals that activate the enzyme deficiency. The most common symptoms are:
- Hemolytic anemia: Favism can cause a sudden breakdown of red blood cells, resulting in anemia. Signs of anemia include fatigue, weakness, pale skin and shortness of breath.
- Jaundice: Excessive breakdown of red blood cells can lead to an accumulation of bilirubin, which can give the skin and whites of the eyes a yellowish color.
- Dark urine: The breakdown product of hemoglobin, which is released during the breakdown of red blood cells, can give urine a dark color.
- Abdominal pain: Some people with favism may experience abdominal pain due to the increased breakdown of red blood cells and the release of waste products into the bloodstream.
- Fever: In severe cases of favism, people may develop fever in response to the breakdown of red blood cells and the waste products released.
Not all people with G6PD deficiency will experience these symptoms, and the severity of symptoms can vary depending on the degree of enzyme deficiency. If a person suspects he or she is suffering from favism, it is advisable to seek immediate medical attention for proper diagnosis and guidance. People with known G6PD deficiency should also exercise caution with foods and medications that can cause favism symptoms.
