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. 2021 Mar 1;106(3):913-917.
doi: 10.3324/haematol.2019.228270.

Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria

Arienne Mirmiran  1 , Antoine Poli  1   2 , Cecile Ged  3   4 , Caroline Schmitt  1   2 , Thibaud Lefebvre  1   2 , Hana Manceau  1   5   6 , Raêd Daher  1   2 , Boualem Moulouel  2 , Katell Peoc'h  1   5   6 , Sylvie Simonin  1   2 , Jean-Marc Blouin  3   4 , Jean-Charles Deybach  1   2 , Gaël Nicolas  1 , Hervé Puy  1   2 , Emmanuel Richard  3   4 , Laurent Gouya  1   2   4
Affiliations

Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria

Arienne Mirmiran et al. Haematologica. .
No abstract available

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Figures

Figure 1.
Figure 1.
The patient’s clinical and biological parameters throughout treatment. (A) Urine porphyrins (gray), plasma porphyrins (blue) and ferritin (dark red). (B) Erythrocyte porphyrins (brown), protoporphyrins (light green), coproporphyrins (purple) and uroporphyrins (orange). (C) Hemoglobin (dark blue), reticulocytes (red) and haptoglobin (dark green). At baseline, the urine porphyrins/creatinine ratio ranged from 1845 to 2565 nmol/mmol (reference <30 nmol/mmol), plasma porphyrin concentrations ranged from 227 to 289 nmol/L (reference <20 nmol/L), reticulocyte counts ranged from 115 to 128 x 109/L (reference range, 20-80 x 109/L), the haptoglobin level was 0.16 g/L (reference range, 0.56-2 g/L) and ferritin ranged from 120 to 150 mg/L (reference range, 18-160 mg/L). Over the entire treatment course, ferritin levels were not greater than 17 mg/L.
Figure 2.
Figure 2.
The pedigree of a family with congenital erythropoietic porphyria and biological parameters at diagnosis. (A) The family pedigree showing three of four siblings diagnosed with congenital erythropoietic porphyria (M: UROS c.660+4delA, +: wild-type allele). Genetic testing confirmed the diagnosis: patients II1, II3 and II4 are homozygous for the UROS mutation c.660+4delA, previously reported.6 (B) The siblings’ laboratory values at diagnosis. CRP: C-reactive protein; UROS: uroporphyrinogen III synthase; Zn: zinc; ND: not determined. NA: not applicable.
Figure 3.
Figure 3.
In vitro erythroid cell porphyrin analysis. Cells were harvested on day 18 for assessment of total erythroid cell porphyrins and porphyrin separation by high performance liquid chromatography with fluorescence detection. Erythrocyte, plasma and urine porphyrins were measured as previously described.15 (A) Porphyrin levels in erythroid cells derived from peripheral CD34+ cells, normalized by protein content after culture in increasing concentrations of holo-transferrin (Holo-Tf). Porphyrins were not detectable in the 20 mg/mL condition, presumably because of the technique’s insufficient sensitivity. (B) Quantification and separation of the different types of porphyrins in erythroid cells by chromatography. (C) The ratio of protoporphyrin IX (PPIX) to coproporphyrin (Copro) level plus uroproporphyrin level ranged from approximately 0.3 in iron-depleted conditions to 0.15 in iron-replete conditions.
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References

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