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Suggest Tests To Detect Porphyria
Our family has a history of porphyria. After reading the list of symtoms, sorry can t spell, many of my family members have them. My sister and her daughter do have the defective gene, HLAB27. Most doctors don t know what we are talking about. Our Aunt passed away from porphyria when she was a young woman. What do we need to do to determine what form of porphyria we each have if at all? Thank you for any help you can give.
Wed, 28 Mar 2018
Hello,
Porphyria, heme related illness it is the problem with the heme production, production of heme taking place in liver and bone marrow which involves different enzymes and certain enzyme deficiency could cause the symptoms of porphyria, but some it could be due to gene mutation, two types of porphyria are there first is acute which involves the nervous system, and second cutaneous which involves the skin, not cure is there for disease, but lifestyle change, avoid triggering factor, counselling may helps a lot, it all depends upon the types of porphyria patient have for to managed the disease, and to know the triggering factors, it is the inherited kind of disease so genetic counseling is a must to prevent the disease in the next generation.
Hope I have answered your query. Let me know if I can assist you further.
Regards,
Dr. Akhtarhusain
Porphyria, heme related illness it is the problem with the heme production, production of heme taking place in liver and bone marrow which involves different enzymes and certain enzyme deficiency could cause the symptoms of porphyria, but some it could be due to gene mutation, two types of porphyria are there first is acute which involves the nervous system, and second cutaneous which involves the skin, not cure is there for disease, but lifestyle change, avoid triggering factor, counselling may helps a lot, it all depends upon the types of porphyria patient have for to managed the disease, and to know the triggering factors, it is the inherited kind of disease so genetic counseling is a must to prevent the disease in the next generation.
Hope I have answered your query. Let me know if I can assist you further.
Regards,
Dr. Akhtarhusain
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