Brief report: Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria

Blood

Volumn 110, Issue 12, 2007, Pages 4108-4110

  Holme, S Alexander ^a   Worwood, Mark ^a   Anstey, Alexander V ^a   Elder, George H ^a   Badminton, Michael N ^a,b  

^a UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^b CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CD71 ANTIGEN; FERROCHELATASE; HEMOGLOBIN; PROTOPORPHYRIN; TRANSFERRIN; FERRITIN; IRON; LEUKOCYTE ANTIGEN; TRANSFERRIN RECEPTOR;

ANEMIA; ARTICLE; CONTROLLED STUDY; ERYTHROCYTE; ERYTHROPOIESIS; ERYTHROPOIETIC PROTOPORPHYRIA; FEMALE; FERRITIN BLOOD LEVEL; HUMAN; IRON ABSORPTION; IRON BINDING CAPACITY; IRON DEPLETION; IRON METABOLISM; IRON STORAGE; MAJOR CLINICAL STUDY; MALE; MICROCYTIC ANEMIA; NONHUMAN; PATHOGENESIS; PHOTOSENSITIVE EPILEPSY; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; WORLD HEALTH ORGANIZATION; BLOOD; CLINICAL TRIAL; CROSS-SECTIONAL STUDY; ENZYMOLOGY; METABOLISM; MULTICENTER STUDY; PHOTOSENSITIVITY DISORDER; SEX DIFFERENCE;

ANEMIA; ANTIGENS, CD; CROSS-SECTIONAL STUDIES; ERYTHROCYTES; ERYTHROPOIESIS; FEMALE; FERRITINS; FERROCHELATASE; HEMOGLOBINS; HUMANS; IRON; MALE; PHOTOSENSITIVITY DISORDERS; PROTOPORPHYRIA, ERYTHROPOIETIC; PROTOPORPHYRINS; RECEPTORS, TRANSFERRIN; SEX FACTORS;

EID: 37049019507     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2007-04-088120     Document Type: Article

References (25)

1. Cox TM. Protoporphyria. In: Kadish KM, Smith KM, Guilard R, eds. Medical Aspects of Porphyrias. The Porphyrin Handbook. Vol 14. Academic Press, Amsterdam, the Netherlands; 2003:121-150.
2. Todd DJ. Erythropoietic protoporphyria. Br J Dermatol. 1994;131:751-766.
3. Mathews-Roth MM. Anemia in erythropoietic protoporphyria [letter]. JAMA. 1974;230:824.
4. Schmidt H, Snitker G, Thomsen K, Lintrup J. Erythropoietic protoporphyria: a clinical study based on 29 cases in 14 families. Arch Dermatol. 1974;110:58-64.
5. DeLeo VA, Poh-Fitzpatrick MB, Mathews-Roth MM, Harber LC. Erythropoietic protoporphyria: 10 years experience. Am J Med. 1976;60:8-22.
6. Baart de la Faille H, Biljmer-Iest JC, van Hattum J et al. Erythropoietic protoporphyria: clinical aspects with emphasis on the skin. Curr Probl Dermatol. 1991;20:123-134.
7. Anderson KE, Sassa S, Bishop DF, Desnick RJ. X-linked sideroblastic anemia and the porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B, eds. The Metabolic and Molecular Basis of Inherited Disease. Vol 2. New York, NY: McGraw-Hill; 2001: 2991-3062.
8. Turnbull A, Baker H, Vernon-Roberts B, Magnus IA. Iron metabolism in porphyria cutanea tarda and in erythropoietic protoporphyria Q J Med. 1973;42:341-355.
9. Rademakers LH, Koningsberger JC, Sorber CW, Baart de la Faille H, Van Hattum J, Marx JJ. Accumulation of iron in erythroblasts of patients with erythropoietic protoporphyria. Eur J Clin Invest. 1993;23:130-138.
10. Abitbol M, Bernex F, Puy H, et al. A mouse model provides evidence that genetic background modulates anemia and liver injury in erythropoietic protoporphyria. Am J Physiol Gastrointest Liver Physiol. 2005;288:G1208-G1216.
11. Lyoumi S, Abitbol M, Andrieu V, et al. Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice. Blood. 2007;109:811-818.
12. Holme SA, Anstey AV, Finlay AY, Elder GH, Badminton MN. Erythropoietic protoporphyria in the United Kingdom: clinical features and effect on quality of life. Br J Dermatol. 2007;155:574-581.
13. Gouya L, Martin-Schmitt C, Robreau A-M et al. Contribution of a single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet. 2006;78:2-14.
14. Worwood M. Iron-deficiency anaemia and iron overload. In: Dacie and Lewis; Practical Haematology. 10th ed. Lewis SM, Bain BJ, Bates I, eds. Philadelphia, PA: Elsevier; 2005:131-160.
15. Deacon AC, Elder GH. Front line tests for the investigation of suspected porphyria. J Clin Pathol. 2000;54:500-507.
16. Jackson HA, Carter K, Darke C, et al. HFE mutations, iron deficiency and overload in 10,500 blood donors. Br J Haematol. 2001;114:474-84.
17. Department of Health. Health Survey for England. Series HS No. 4. London, United Kingdom; 1994.
18. Allen J, Backstrom KR, Cooper JA, et al. Measurement of soluble transferrin receptor in serum of healthy adults. Clin Chem. 1998;44:35-39.
19. Went LN, Klasen EC. Genetic aspects of erythropoietic protoporphyria. Ann Hum Genet. 1984;48:105-117.
20. Holme SA, Thomas CL, Whatley SD, Bentley DP, Anstey AV, Badminton MN. Symptomatic response of erythropoietic protoporphyria to iron supplementation. J Am Acad Dermatol. 2007;56:1070-1072.
21. Walters GO, Miller FM, Worwood M. Serum ferritin concentrations and iron stores in normal subjects. J Clin Pathol. 1973;26:770-772.
22. Skikne BS, Flowers CH, Cook JD. Serum transferrin receptor: a quantitative measure of tissue iron deficiency. Blood. 1990;75:1870-1876.
23. Laftah AH, Raja KB, Beaumont N, et al. The effects of inhibition of haem biosynthesis by griseofulvin on intestinal iron absorption. Basic Clin Pharmacol Toxicol. 2004;94:161-168.
24. Richmond VS, Worwood M, Jacobs A. The iron content of intestinal epithelial cells and its subcellular distribution: studies on normal, iron-over-loaded and iron-deficient rats. Brit J Haematol. 1972;23:605-613.
25. McClements B, Bingham A, Callender ME, Trimble ER. Erythropoietic protoporphyria and iron therapy. Brit J Dermatol. 1990;122:423-426.