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Porphyria

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Most of the porphyrias are inherited as dominant complaints with variable features and expressivity. One cutaneous porphyria (PCT) has a relationship to iron overload and the HFE gene that determines iron storage in haemochromatosis is frequently observed in patients with this disorder. Viral infections, such as hepatitis C, B and HIV may incidentally also provoke expression of PCT in predisposed individuals. Erythropoietic protoporphyria, which is principally a cutaneous porphyria, shows di-allelic inheritance. ALA dehydratase deficiency, a very rare acute porphyria exacerbated by exposure to light, is inherited as a recessive condition. Congenital porphyria is inherited as a recessive disorder.

Prenatal diagnosis
In severe cases of porphyria, prenatal diagnosis may be undertaken in selected families at risk.

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Medical text written February 2001 by Professor T Cox. Last updated December 2005 by Professor T Cox, Professor of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, UK.

 

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