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Why are men more susceptible to G6PD deficiency? Do you understand this hidden genetic secret?
G6PD deficiency (glucose-6-phosphate dehydrogenase deficiency) is one of the most common enzyme deficiency anemias worldwide. An inborn error of metabolism, people with the defect may experience the breakdown of red blood cells when exposed to certain triggers. Although most patients usually have no obvious symptoms, symptoms such as jaundice, dark urine, shortness of breath, and fatigue may occur when exposed to certain triggers. This condition is particularly common in males, which is closely related to its X-linked recessive inheritance.
“G6PD deficiency involves the X chromosome and can only be passed from mother to son, so the incidence rate in men is much higher than in women.”
Defects in G6PD make red blood cells more fragile and susceptible to destruction by oxidative stress or attack by certain pathogens. In males, since they have only one X chromosome, any mutation will manifest directly; in contrast, females have two X chromosomes, and under certain circumstances (e.g., effectively random X chromosome inactivation), they may have normal genes, thereby reducing the chance of disease manifestation.
Additionally, carrier females may show the deficiency in only some of their red blood cells, a condition known as "biased X inactivation" or "unbalanced X inactivation." This complex interaction of genes makes women generally less affected by the disease.
"Although female carriers may not have significant symptoms, in some extreme cases their red blood cells may develop sensitivity similar to that of men."
The risk of G6PD deficiency is increased with certain foods and medications. The most well-known is the spiral bean (also called fafu bean), which is why it is called "favism". Chemical components in such foods can trigger an acute hemolytic reaction. Still, not all people with G6PD deficiency will react to spiral beans, but the sensitivity does appear to be more common in toddlers and children.
In addition, some drugs, such as antimalarial drugs and certain types of aspirin, may also cause acute attacks in patients. For patients with G6PD deficiency, it is particularly important to understand possible triggers and avoid them.
With the increase in health awareness, more and more attention has been paid to the diagnosis and management of G6PD deficiency. Medical professionals recommend G6PD screening before using certain medications to avoid potential health risks.
“G6PD deficiency affects approximately 400 million people worldwide, and the scope of this condition is concerning.”
Statistics show that the disease is particularly common in Africa, Asia and the Middle East, and that it has a historical evolutionary link to malaria. Many scholars believe that certain variants of G6PD deficiency make these populations somewhat resistant to Plasmodium infection, which is a possible evolutionary advantage.
Diagnosing G6PD deficiency usually relies on the patient's family history and related symptoms, and blood tests and genetic testing can further support the diagnosis. Most patients show obvious symptoms of anemia during an acute hemolytic episode after encountering a trigger.
In short, the understanding of G6PD deficiency is not only a discussion of a physiological defect, but also a profound reflection on genetic inheritance and biological evolution. How men are more susceptible to certain genetic diseases has once again raised questions about the inequalities in genetic inheritance between all genders. In the process of understanding G6PD deficiency, can we also think about other similar genetic diseases and promote research and attention to these diseases?
