~Follow-up questions regarding female individuals with Favism?
I was really touched to receive the doctor's response.
Our family does not have a history of favism on my father's side, but there are relatives on my mother's side who do.
Now, our newborn daughter has favism, and the obstetrician advised us to remove all related items from our home.
We were quite surprised and could only consult Dr.
Jian.
The doctor mentioned, "Because females have another normal chromosome, their bodies may sometimes express one X chromosome while not expressing the other X chromosome, so the enzyme activity in carrier females can range from very low to normal." Does this mean that, under normal circumstances, it should not occur?
ning, 20~29 year old female. Ask Date: 2008/05/27
Dr. Jian Yingxiu reply Rare Disease
No, females can also develop the condition.
Please follow the subsequent diagnostic confirmation process, and avoid substances that may trigger the disease until a diagnosis is confirmed.
Once the enzyme activity of the baby is determined, you can decide whether to continue avoiding potential triggers based on the disease status.
You may also consider undergoing screening for G6PD deficiency and genetic counseling together with your husband.
Reply Date: 2008/05/27
More Info
Understanding G6PD deficiency, particularly in females, is crucial for managing health risks and ensuring proper care. G6PD (Glucose-6-Phosphate Dehydrogenase) deficiency is a genetic condition that affects the enzyme responsible for protecting red blood cells from damage. This condition is more commonly associated with males due to its X-linked inheritance pattern, meaning that males have only one X chromosome and are more likely to express the deficiency if they inherit the gene. Females, on the other hand, have two X chromosomes, which can lead to a more variable expression of the deficiency.
In females, the presence of two X chromosomes means that one normal copy can often compensate for the defective one. This can result in a range of enzyme activity levels, from normal to severely deficient. As you mentioned, the enzyme activity in carrier females can vary significantly, which means that while some may have sufficient enzyme activity to prevent hemolysis (the breakdown of red blood cells), others may have low levels that could lead to complications under certain stressors, such as infections, certain medications, or consumption of fava beans.
The concern about your newborn daughter having G6PD deficiency, especially with a family history of the condition, is valid. It is essential to follow the advice of your healthcare provider regarding the removal of potential triggers from your home. While it may seem excessive, avoiding fava beans and certain medications is crucial for preventing hemolytic episodes, which can occur when individuals with G6PD deficiency are exposed to oxidative stress.
Regarding your question about the likelihood of females expressing G6PD deficiency, it is generally true that females are less likely to experience severe symptoms compared to males. However, this does not mean they are entirely free from risk. Some females can exhibit symptoms, especially if they have a skewed X-inactivation pattern where the X chromosome carrying the G6PD deficiency is more frequently expressed. This can lead to a situation where they may experience hemolytic anemia under stress.
It is also important to note that G6PD deficiency is not a static condition; it can manifest differently at various life stages, particularly during times of stress such as illness, pregnancy, or exposure to certain drugs. Therefore, it is essential for families with a history of G6PD deficiency to be vigilant and informed about the condition.
In summary, while females with G6PD deficiency may have a lower risk of severe symptoms due to the presence of a second X chromosome, they are not immune to the effects of the deficiency. It is crucial to maintain open communication with healthcare providers, monitor for any signs of hemolysis, and adhere to recommendations regarding diet and medication. Regular follow-ups and education about the condition can help manage risks effectively and ensure the well-being of individuals with G6PD deficiency.
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