Canadian Association for Porphyria

Living with Porphyria

What about my children?

Since a defective gene causes porphyria, it means that the children can be affected if one of the parents has porphyria. The inheritance of this gene can be classified as either dominant, in which case there is a 1 in 2 chance that the child will develop the disease, or as recessive in which case it will be very unlikely for the offspring to develop the problem. Although most types of porphyria are associated with a dominant inheritance pattern, the majority of the carriers of these abnormal genes will have latent disease and never develop symptoms and not be aware of this problem throughout their entire lives. Genetic counselling is available but most patients prefer to go about their lives in a normal fashion and deal with their family planning in their own personal fashion. The biochemical tests for porphyria may not become positive until after puberty but if the mutation can be identified by DNA testing in the person with porphyria, then that mutation can be tested for in a child or in another family member, such as a brother or sister, potentially at risk.

Source: This information originally appeared in a booklet written for the Canadian Porphyria Foundation: A Guide to Porphyria (1991) by Dr. Barry A. Tobe, MD, Ph.D, FRCP(C), Toronto, Ontario, Canada. The content has been updated by Dr. Brian M. Gilfix, MDCM, PhD, FRCPC, DABCC, FACB on 22/03/2015.

Last Updated: 22/March/2015 

Medical Disclaimer

Care has been taken to ensure that the information on this website is accurate at the time of publication. This information is, however, intended for general guidance only and is not meant to substitute consultation from a recognized health professional. The Canadian Association for Porphyria/Association Canadienne de Porphyrie disclaims for itself and for the author of this information, all responsibility for any mis-statements or for consequences of actions taken by any person while acting on information contained herein. Physicians and patients must make their own decisions about therapy according to the individual circumstances of each case.

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