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How are the porphyrias inherited? can my children inherit porphyria from me?

2 doctor answers6 doctors weighed in
Dr. K. Olson
Dr. K. Olsonanswered
Psychiatry 39 years experience
It is possible: It is autosomal dominant. In addition there are 200 different mutations. The porphobilinogen deaminase gene is responsible - not providing enough to breakdown heme. 1-5 cases per 100, 000 people in the USA.
Dr. Anthony LaBarbera
Dr. Anthony LaBarberaanswered
Pediatrics 28 years experience
See below: Case of porphyria vary in their inheritance pattern. Some are autosomal dominate and only require one gene to be inherited. So the child would have a fifty percent chance. Others are autosomal recessive and require two genes, one form each parent. The child would have a twenty five percent chance.

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Last updated Jul 28, 2018

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