Blood, 1955, Vol. 10, No. 5, pp. 416-428.
© 1955 American Society of Hematology, Inc.
Erythropoietic (Congenital) Porphyria: A Rare Abnormality
of the Normoblasts
RUDI SCHMID 1,
SAMUEL SCHWARTZ 1, and
R. DOROTHY SUNDBERG 1
1 Department of Medicine, University of Minnesota Medical School and Hospital and the Department of Anatomy and from the University of Minnesota Hospital
Laboratories.
1. In 5 patients with erythropoietic (congenital) porphyria, unstained bone
marrow preparations were studied and photographed by fluorescence and
absorption microscopy. The same marrow slides were also studied after ordinary
staining.
2. Two morphologically different varieties of normoblasts were observed,
which were designated as normal and abnormal cells. Normoblasts of the
abnormal variety exhibited nuclear inclusion bodies containing hemoglobin.
3. Red fluorescence, indicative of porphyrin, was found only in normoblasts
belonging to the abnormal cell variety. Normal normoblasts failed to exhibit red
fluorescence.
4. The red fluorescence originated predominantly from the normoblastic
nucleus. The fluorescence intensity of the cytoplasm was usually very low.
Polychromatophilic erythrocytes also exhibited only weak fluorescence.
5. These findings indicate the coexistence of two different lines of normoblasts.
The nuclei of cells belonging to the abnormal line probably form excessive
amounts of porphyrins and may release them into the plasma in the course of
cellular maturation. It is believed that these cells carry the abnormal trait
representing the "inborn error of metabolism."
6. A critical review of all cases of porphyria, reported as "congenital," has
shown that on the basis of the presented data, it was possible to establish the
diagnosis of erythropoietic (congenital) porphyria beyond reasonable doubt
in but 34 instances. Nineteen of the patients were female, fourteen were male.
In a few families, more than one case was observed in the same generation, but
in no instance was the disease recognized in subsequent generations.
7. Erythropoietic porphyria is a congenital disease, entirely distinct from
hepatic photosensitive ("cutanea tarda") porphyria. No evidence has been
found of a genetic mixture of these two forms of porphyria.
Submitted on July 8, 1954
Accepted on November 3, 1954
