Understanding Carrier Status and Symptoms of G6PD Deficiency in Family
Will carriers of G6PD deficiency be affected? I am a mother who gave birth to a son with G6PD deficiency, and that was when I discovered that I am a carrier. When my daughter was born, she was also tested, and the report indicated that she does not have G6PD deficiency. I would l...
Dr. Jian Yingxiu Reply:
If a woman needs to confirm whether she is a carrier of G6PD deficiency, she may consider undergoing genetic testing. However, carriers generally do not exhibit symptoms. Whether your daughter's hematuria and body temperature are related to G6PD deficiency should be evaluate...[Read More] Understanding Carrier Status and Symptoms of G6PD Deficiency in Family
Understanding Female G6PD Deficiency: Insights and Concerns
~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...
Dr. Jian Yingxiu Reply:
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 avoid...[Read More] Understanding Female G6PD Deficiency: Insights and Concerns
Understanding Favism: Do Both Parents Need to Be Carriers for Females?
Favism, also known as fava bean disease, is a genetic disorder characterized by a deficiency of the enzyme glucose-6-phosphate dehydrogen To develop favism, a female must inherit the gene from both parents, meaning both parents need to be carriers of the gene.
Dr. Jian Yingxiu Reply:
The gene for G6PD deficiency (Favism) is located on the X chromosome. Females inherit one X chromosome from each parent, and if either of these contains a pathogenic mutation, there is a chance of developing enzyme deficiency (Favism). However, because females have another normal...[Read More] Understanding Favism: Do Both Parents Need to Be Carriers for Females?
Understanding Citrullinemia: Diagnosis, Symptoms, and Treatment Options
Regarding Citrullinemia Hello Doctor: Our baby tested positive in the newborn screening. The retest also came back positive. I would like to understand if this confirms that my child has this condition. Additionally, what symptoms are associated with this condition? Will it have ...
Dr. Lin Xuanpei Reply:
Which item in the newborn screening are you referring to? Is the physician responsible for explaining the results a specialist in Pediatric Genetics and Metabolism or Pediatric Endocrinology? If so, the parent should not be so confused. A positive result in newborn screening typi...[Read More] Understanding Citrullinemia: Diagnosis, Symptoms, and Treatment Options
Understanding Favism: Nutrition and Management for Patients
Regarding Favism (G6PD deficiency) Hello Dr. Zhu: While G6PD deficiency may not be classified as a rare disease, the symptoms caused by exposure to camphor oil or ingestion of fava beans (hemolysis) can be quite frightening. I have seen online that individuals with G6PD deficienc...
Dr. Zhu Shaoying Reply:
Hello: Favism is a genetic defect primarily located on the X chromosome, inherited in a sex-linked recessive manner, which is why the majority of patients are male. Patients lack the enzyme "glucose-6-phosphate dehydrogenase" (G6PD), and when they take oxidative medicat...[Read More] Understanding Favism: Nutrition and Management for Patients
Understanding Favism: Causes, Symptoms, and Daily Precautions
Favism What is Favism? Favism is a condition that occurs due to a deficiency of the enzyme glucose-6-phosphate dehydrogenase (G6PD). This enzyme deficiency can lead to hemolytic anemia, especially after the consumption of fava beans or exposure to certain infections, medication...
Dr. Jian Yingxiu Reply:
The formal medical term for Favism is "Glucose-6-Phosphate Dehydrogenase Deficiency," abbreviated as G6PD deficiency. G6PD is an enzyme that assists in the metabolism of glucose in the human body, producing a substance that protects red blood cells. Patients with Favism...[Read More] Understanding Favism: Causes, Symptoms, and Daily Precautions