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Previous Volume 330:1091-1092 April 14, 1994 Number 15 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

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To the Editor: Congenital erythropoietic porphyria is a defect of uroporphyrinogen III synthase, with accumulation of uroporphyrin I, extreme hemolysis, and photosensitivity^1,2. We previously reported the effectiveness of aggressive transfusion in a patient with severe disease³. The excess porphyrins were mostly of erythropoietic origin.

The patient, who had been dependent on transfusions since birth, is now 18 years old. The base-line hematocrit, maintained initially at 20 percent or higher, was raised to 33 percent or higher by two years of age. The serum porphyrin levels remained at 48 to 76 µg per deciliter. At the age of six . . . [Full Text of this Article]

References

This article has been cited by other articles:

• Berry, A. A., Desnick, R. J., Astrin, K. H., Shabbeer, J., Lucky, A. W., Lim, H. W. (2005). Two Brothers With Mild Congenital Erythropoietic Porphyria Due to a Novel Genotype. Arch Dermatol 141: 1575-1579 [Abstract] [Full Text]  
• Tezcan, I., Xu, W., Gurgey, A., Tuncer, M., Cetin, M., Oner, C., Yetgin, S., Ersoy, F., Aizencang, G., Astrin, K.H., Desnick, R.J. (1998). Congenital Erythropoietic Porphyria Successfully Treated by Allogeneic Bone Marrow Transplantation. Blood 92: 4053-4058 [Abstract] [Full Text]