G6PD deficiency

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that affects the red blood cells, specifically the enzyme glucose-6-phosphate dehydrogenase. This enzyme plays a crucial role in protecting red blood cells from damage caused by certain substances in the body, such as oxidative stress. People with G6PD deficiency have a reduced amount of or a malfunctioning G6PD enzyme, which makes their red blood cells more vulnerable to oxidative stress. This can lead to a condition called hemolysis, where red blood cells are destroyed at a faster rate than normal. Hemolysis can cause anemia (a reduced number of red blood cells), jaundice (yellowing of the skin and eyes due to the buildup of bilirubin), and potentially serious complications in severe cases.

G6PD deficiency is inherited in an X-linked recessive manner, meaning the gene mutation responsible for the condition is located on the X chromosome. This means that the condition is more common in males, as they have only one X chromosome. Females are usually carriers of the gene mutation and may not experience severe symptoms themselves, but they can pass the mutation to their children.

Certain triggers can provoke hemolysis in individuals with G6PD deficiency, including:

1. Infections
2. Certain medications (such as antimalarial drugs, certain antibiotics, and some pain relievers)
3. Fava beans (also known as broad beans)
4. Certain chemicals and substances found in certain foods and beverages
5. Physical stressors like infections, fever, surgery, and trauma, which increase the demand for red blood cells and can exacerbate the compromised state of red blood cells in G6PD-deficient individuals.
6. Mental stress, while not as directly linked to hemolysis as physical stress, can indirectly contribute to oxidative stress and impact red blood cells due to the production of reactive oxygen species during the body’s stress response.

The severity of G6PD deficiency can vary widely, with some individuals experiencing mild symptoms while others may have more severe reactions. Diagnosis is typically confirmed through blood tests that measure G6PD enzyme activity.

Management of G6PD deficiency involves avoiding triggers and substances that can lead to hemolysis, and in severe cases, medical intervention might be necessary if hemolysis is causing significant complications. If you suspect you or someone you know has G6PD deficiency, it’s important to consult a healthcare professional for proper diagnosis and guidance on managing the condition.