Favism, or bean disease, is an inherited genetic disease in which life-threatening anemia occurs. Its development may occur under the influence of various factors, including after eating broad beans. What are the symptoms of favism (bean disease)? What is inheritance and healing?

Favism(bean disease, bean disease, from the Latin name for broad beans -Vicia faba ) is an inherited genetic disease that can manifest itself suddenly, under the influence of seemingly harmless factors, such as e.g. eating broad beans.

Favism is estimated to affect over200 million peopleworldwide. In Poland, this disease affects1 per 1000 people .

Favism (bean disease) - causes

The cause of favoritism is a deficiency of the enzymeglucose-6-phosphate dehydrogenase(G6PD) located on the X chromosome

This enzyme plays a key role in the transformation of red blood cells. The task of the enzyme is to stimulate the production of a certain factor that helps blood cells to survive longer.

Deficiency of this enzyme leads to too fastdying of red blood cells . When red blood cells are broken down, the hemoglobin they contain is released into the plasma (it should be properly built into red blood cells). This process is called hemolysis. As a consequence, hemolytic anemia develops.

However, the mere presence of a genetic defect is not enough to cause symptoms of favism. In addition to the genetic factor, there must also be an additional factor. It can be:

  • infection,
  • taking medication (even vitamin C),
  • eating broad beans, even a small amount, sometimes even contact with its pollen - people with the G6PD gene mutation have a different degree of susceptibility to falling ill. In medicine, the patient's sensitivity falls into one of three classes.)

And it is from beans that favism got its second name - " bean disease ". Symptoms of this condition may also occur after eating otherlegumes , e.g. green beans, chickpeas, peas or lentils

Worth knowing

Favism - men suffer from bean disease more often

Favism is more often diagnosed in men because the gene responsible for the development of thisthe disease is located on the X chromosome. Men have only one such chromosome. Thus, it is enough to damage one copy of the G6PD gene for them to develop symptoms of favism. Women have two X chromosomes, so the presence of only one copy of the damaged gene will not cause her bean disease symptoms (because they have one more correct copy of the gene "in reserve" on the other chromosome). For a woman to develop symptoms, she would therefore have to inherit two copies of the defective gene from both parents, which is rare. However, it is not necessary to have symptoms of the disease to pass the defective gene to children.

Favism (bean disease) - symptoms

  • headache
  • fever
  • vomiting
  • pain in the abdomen or lumbar spine
  • jaundice
  • dark urine
  • feeling tired

Favism (bean disease) - diagnosis

In patients with suspected favism, a blood smear is made for the presence of abnormal erythrocytes, and the level of bilirubin, hemoglobin or iron in the blood plasma is checked.

Final diagnosis is made on the basis of genetic testing.

Favism (bean disease) - treatment

Treatment is mainly based on red blood cell transfusions. Due to frequent and severe episodes of haemolysis, splenectomy is performed - a procedure to remove the spleen. The necessary action is to avoid factors causing hemolysis.

Category:

Genetic diseases