G6PD deficiency, commonly known as favismosis, is an inherited glucose-6-phosphate dehydrogenase (G6PD) deficiency. It is the most common hereditary enzyme deficiency disease, commonly known as favismosis. About 200 million people worldwide suffer from this disease. my country is one of the areas with high incidence of this disease, with a distribution pattern of high in the south and low in the north, with a prevalence rate of 0.2-44.8. It is mainly distributed in the provinces south of the Yangtze River, especially in Hainan, Guangdong, Guangxi, Yunnan, Guizhou, Sichuan and other provinces. The cause of G6PD deficiency is due to a mutation in the G6PD gene, which reduces the activity of the enzyme. Red blood cells cannot resist oxidative damage and are destroyed, causing hemolytic anemia.

Clinical manifestations of G6PD deficiency

The clinical manifestations of G6PD deficiency are roughly the same as those of general hemolytic anemia. It is divided into clinical types such as neonatal jaundice, favismosis, drug-induced hemolysis, infectious hemolysis, and non-spheroid hemolytic anemia. The clinical manifestations of this disease vary in severity. Most patients, especially female heterozygotes, do not develop symptoms at ordinary times and have no conscious symptoms. Some patients may show symptoms of chronic hemolytic anemia. Acute hemolytic reactions such as hemoglobinuria, jaundice, and anemia are often induced by eating broad beans, taking or coming into contact with certain drugs, and infection. Severe acute hemolytic anemia caused by G6PD deficiency results in excessive destruction of red blood cells. If not treated in time, it can cause liver, kidney, or heart failure, and even death. In the 1960s, an epidemic of G6PD deficiency broke out in Xingning, Guangdong during the broad bean harvest season, resulting in the death of many patients. G6PD deficiency is the main cause of pathological jaundice in newborns. According to statistics from Sun Yat-sen Medical University, about 50% of newborns suffering from G6PD deficiency will develop neonatal jaundice, and about 12% of them may develop kernicterus, causing brain damage and mental retardation.

The inheritance pattern of G6PD deficiency

G6PD deficiency is an X-linked incomplete dominant inheritance. The expression of enzyme deficiency varies, and some female heterozygotes may have normal enzyme activity. There are more male patients than female patients.