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CORRESPONDENCE
4480
Burst-Forming Units-Erythroid From Erythropoietic Protoporphyria Patients Fluoresce Under 405 nm Light
To rhe Editor:
Erythropoietic protopoph~aW P ) is a rare genetic disease, the
symptom of which are itching or buming sensations in light-exposed
skin.'In EPP,ferrochelatase, the enzyme that inserts iron into protopor-
phyrin to form heme, is defective. This defect leads to excess accumulation of protoporphyrin in erythroid cells and plasma and excretion of the
excess protoporphyrin in the bile and feces. If a smear of peripheral
blood is examined under a fluorescence microscope using 405 nm excitation light, 5% to 20% of the erythrocytes have a red fluorescence."
Fig 1. (A) BFUe from an EPP patient, light microscope (original magnification + 100). IB) BFUe from (A), fluorescense microscope, 405 nm
excitation light. (C) BFUe from a normal individual, light microscope (original magnification 100). (D)BFUe from (C), 405 nm excitation light.
+
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CORRESPONDENCE
We have found that, when peripheral blood mononuclear cells
are cultured in methyl cellulose medium fortified with interleukin-3, interleukin-6, granulocyte-macrophage colony-stimulating factor, Steel factor, and erythropoietin, all burst-forming
unit-erythroid (BFUe) colonies grown from the blood of EPP
patients fluoresced when viewed under 405 nm light, whereas
BFUe from the blood of normal individuals did not fluoresce.
Figure 1A shows a BFUe from an EPP patient viewed under the
light microscope. Figure 1B shows the same BFUe viewed under
the fluorescence microscope, using 405 nm excitation light. Figure 1C shows a BFUe from a normal individual viewed under
the light microscope. Figure 1D shows the same BFUe viewed
under 405 nm excitation light.
Although P-carotene is effective in preventing the symptoms of
EPP? only genetic therapy will cure this disease. Because the presence of fluorescence in BFUe from EPP patients is an indication of
defective fenochelatase activity, we suggest that the presence or
absence of fluorescence in EPP BFUe derived from stem or progenitor cells transfected in vitro with the normal ferrochelatase gene can
be used to determine whether normal ferrochelatase enzyme activity
has been restored.
4481
Micheline M. Mathews-Roth
Robert J. Wise
Department of Medicine
Brigham & WomenS Hospital
Boston, MA
Barbara A. Miller
Department of Pediatrics
Milton Hershey Medical Center
Hershey, PA
REFERENCES
1. Desnick RJ: The porphyrias, in Isselbacher KJ, Braunwald
E, Wilson JD, Martin JB, Fauci AS, Kasper DL (eds): Hanison’s
Principles of Internal Medicine, vol 1 (ed 13). New York, NY,
McGraw-Hill, 1994, p 2073
2. Poh-Fitzpatrick MB: Erythropoietic protoporphyria. Int J Dermatol 17:359, 1978
3. Mathews-Roth MM, Pathak MA, Fitzpatrick TB, Harber LH,
Kass EH: Beta-carotene therapy for erythropoietic protoporphyria
and other photosensitivity diseases. Arch Dermatol 113:1229, 1977
From www.bloodjournal.org by guest on July 31, 2017. For personal use only.
1996 87: 4480-4481
Burst-forming units-erythroid from erythropoietic protoporphyria
patients fluoresce under 405 nm light [letter]
MM Mathews-Roth, RJ Wise and BA Miller
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