Deletion of the ferrochelatase gene in a patient with protoporphyria

Protoporphyria is in general an autosomal dominant disease that is characterized biochemically by elevated protoporphyrin levels and clinically by photosensitivity and hepatobiliary disease. We report deletion of the ferrochelatase gene in a protoporphyric patient. The case report of this patient was previously published. Briefly, she is a white female born in 1967 with mental retardation and developmental deformities. Karyotyping revealed a mosaism of 46, XX (20% of cultured lymphocytes) and 46, XX, 18q super(-). Protoporphyria was diagnosed on the basis of biochemical testing revealing elevated erythrocytic and fecal protoporphyrin levels, normal serum iron level and normal red blood cell indices.