Ferrochelatase gene polymorphism analysis for accurate genetic counselling in erythropoietic protoporphyria

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Abstract
It has recently been shown that most cases of clinically overt erythropoietic protoporphyria (EPP) result from coinheritance of a mutated ferrochelatase gene and a commonly occurring low‐expression normal variant allele. The identification of two polymorphic variant sequences associated with this low‐expression allele now enables improved predictive counselling for couples where one partner has EPP. We describe a patient and his spouse in whom we have used such genetic analysis to provide an accurate estimate of the chance that their future offspring may suffer from EPP.