Fava Bean Disease: Testing and Pediatric Considerations

Testing for Favism (G6PD Deficiency)

Hello: I was born at Taichung Veterans General Hospital and was diagnosed with G6PD deficiency during the newborn screening.
Is it possible that the initial test could have had some errors? Since I unknowingly consumed fava beans as a child without any issues, does it mean that a certain threshold of exposure is needed to trigger hemolysis? If I want to get retested now, should I make an appointment with the hematology department in internal medicine?

Via, 20~29 year old female. Ask Date: 2009/05/05

Dr. Xiao Kaiwen reply Pediatrics

Newborn screening, as it is termed "screening," indicates that there is a margin of error involved.
However, if the screening result is (suspected) positive, the individual should be referred to a major hospital for confirmatory blood tests.
G6PD deficiency, also known as favism, is a condition characterized by a deficiency of an enzyme within red blood cells.
Exposure to certain substances can lead to hemolysis of red blood cells, but the amount of enzyme deficiency varies among individuals, and consequently, the amount of triggering factors required to induce hemolysis also differs (those with a greater deficiency may experience hemolysis with only a small amount of triggering factor).
A quantitative test for enzyme deficiency can be performed at a hematology department.
However, even if one knows the level of their deficiency, it is generally unknown how much of the triggering factor they might be exposed to and whether it will lead to hemolysis.
Therefore, individuals with G6PD deficiency should avoid exposure to those triggering factors.

Reply Date: 2009/05/05

More Info

Fava bean disease, also known as G6PD deficiency, is a genetic condition that affects the red blood cells and can lead to hemolytic anemia when individuals are exposed to certain triggers, such as fava beans or specific medications. Understanding this condition, especially in the context of pediatric considerations, is crucial for managing the health of affected individuals and their families.

To address your concerns, it is important to note that newborn screening tests, while generally reliable, are not infallible. There is a small possibility of false negatives or positives, especially in the early days of life. If your child was diagnosed with fava bean disease through newborn screening, it is unlikely that the result was a mistake, but if you have concerns, it is reasonable to seek further testing.
Regarding your question about whether exposure to fava beans or other triggers requires a cumulative effect to induce hemolysis, the answer is yes. Individuals with G6PD deficiency may not experience hemolysis upon the first exposure to a trigger; rather, the severity of the reaction can depend on the amount and frequency of exposure. Some individuals may tolerate small amounts of fava beans without any adverse effects, while others may react severely even to minimal exposure.
If you are considering retesting for G6PD deficiency, you would typically consult with a healthcare provider specializing in hematology or internal medicine. A simple blood test can confirm the presence of G6PD deficiency and assess the enzyme levels. It is advisable to discuss your concerns with your primary care physician, who can guide you on the appropriate steps and refer you to a specialist if necessary.

In terms of pediatric considerations, it is essential to educate families about the condition, including potential triggers and symptoms of hemolytic anemia, such as jaundice, dark urine, fatigue, and paleness. Parents should be vigilant about avoiding known triggers and should seek medical attention if their child exhibits any concerning symptoms.

For your daughter, since she has been experiencing blood in her urine and elevated body temperature, it is crucial to have her evaluated by a healthcare professional. While these symptoms may not be directly related to G6PD deficiency, they warrant further investigation to rule out any other underlying conditions.
In summary, while the initial screening for fava bean disease is generally reliable, retesting can provide peace of mind if there are concerns about the diagnosis. Understanding the triggers and symptoms of G6PD deficiency is vital for managing the health of affected individuals. Always consult with a healthcare provider for personalized advice and management strategies.

Similar Q&A

Understanding Favism in Children: Risks and Age-Related Changes

Is it true that babies with G6PD deficiency are less likely to experience hemolytic episodes triggered by camphor or fava beans as they grow older?

Dr. He Shenglong reply Pediatrics
Hello: Commonly known as Favism, this is a hereditary condition characterized by an abnormality in the glucose-6-phosphate dehydrogenase (G6PD) metabolism of red blood cells. Exposure to fava beans, camphor, gentian violet, or the use of sulfonamides and aspirin can easily lead t...

Can People with Favism Eat Peas or Fava Beans?

Hello, doctor: I have favism. Since I was young, my family has told me not to eat fava beans, but the packaging of fava bean snacks states that they are made from split peas. Can I eat fava bean snacks with my condition?

Dr. Liao Yaopan reply Family Medicine
Hello, G6PD deficiency, also known as favism, is a hereditary condition primarily related to abnormal glucose metabolism in red blood cells. When exposed to oxidative substances, such as fava beans, certain medications like nitrofurantoin, and dyes like methylene blue, as well as...

Can Fava Bean Disease Patients Use Common Ointments and Essential Oils?

Consulting a physician: Can patients with G6PD deficiency use common household medications such as Tiger Balm, Green Oil, or Mentholatum? Are essential oils safe to use? Thank you!

Dr. Cai Dongqi reply Family Medicine
Patients with G6PD deficiency should avoid using ointments such as Tiger Balm, Green Oil, and Mentholatum. However, they must strictly avoid fava beans and aspirin.

Understanding the Risk of Favism After Age 18: Insights and Advice

I have a condition called favism. My doctors have always told me that the likelihood of developing symptoms decreases after the age of 12, but I am still concerned about the possibility of an onset. I hope you can provide me with some advice.

Dr. Lin Mingxing reply Family Medicine
Favism is a genetic hereditary defect that is prone to occur upon exposure to substances such as fava beans, mothballs, and certain medications, leading to hemolysis. As individuals age (over 10 years old), their immune system stabilizes and the likelihood of onset decreases slig...