G6PD deficiency is a genetic condition that affects the glucose-6-phosphate dehydrogenase (G6PD) enzyme. This enzyme helps protect cells from damage caused by free radicals and helps keep red blood cells healthy.
When the G6PD enzyme does not work properly, red blood cells may break down more easily. This can lead to hemolytic anemia, a condition in which red blood cells are destroyed faster than the body can replace them.
However, G6PD deficiency alone does not usually cause hemolytic anemia. Triggers such as infections, certain medications, or eating fava beans can cause red blood cells to break down, leading to symptoms such as shortness of breath, dark urine, and heart palpitations.
G6PD deficiency symptoms
G6PD deficiency may not cause any symptoms. However, when a person is exposed to certain triggers, it can lead to hemolytic anemia and symptoms such as:
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Heart palpitations
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Fever
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Excessive tiredness
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Pale skin
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Yellowing of the skin or eyes
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Dizziness
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Confusion
If these symptoms occur, it is important to see a primary care provider or hematologist so that the condition can be diagnosed and treated appropriately.
Confirming a diagnosis
G6PD deficiency can be diagnosed shortly after birth through expanded newborn screening. It can also be diagnosed later in life with a blood test that measures G6PD enzyme levels.
In addition, the doctor may order other blood tests, such as a complete blood count (CBC), hemoglobin levels, and a reticulocyte count. These tests provide information about red blood cells and can help diagnose hemolytic anemia.
The doctor should also review the medications the person is taking, check for infectious diseases, and assess dietary habits.
Possible causes
G6PD deficiency is caused by a genetic mutation that leads to lower levels of the glucose-6-phosphate dehydrogenase (G6PD) enzyme. According to the American Society of Hematology, this makes red blood cells more vulnerable to oxidative damage and more likely to break down.
Some factors can increase the amount of free radicals in the body, such as:
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Stress
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Infectious diseases
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Eating fava beans
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Use of medications such as chloroquine, hydroxychloroquine, acetaminophen, or sulfamethoxazole
When this enzyme is deficient, cells have less protection against free radicals. This can lead to the destruction of red blood cells and the development of hemolytic anemia.
G6PD deficiency and COVID-19
Some laboratory studies have suggested that G6PD deficiency may increase the risk of coronavirus infection and severe COVID-19. This may happen because SARS-CoV-2 can increase free radical production inside cells, which may destroy red blood cells and contribute to hemolytic anemia.
However, more studies are needed to determine whether there is a true relationship between G6PD deficiency and COVID-19 infection.
Treatment options
Treatment for G6PD deficiency consists of avoiding risk factors that can trigger hemolytic anemia. These include antimalarial medications such as chloroquine, sulfonamide antibiotics such as sulfamethoxazole, pain relievers such as acetaminophen, and fava beans.
If hemolytic anemia develops due to G6PD deficiency, treatment should focus on the trigger, such as an underlying infection. In severe cases, hospitalization may be needed for oxygen therapy or a blood transfusion to replace red blood cells.