Tăng cường transferrin huyết tương, phân bố sắt trong cơ thể bị thay đổi và thiếu máu vi hồng cầu nhược sắc ở chuột thiếu ferrochelatase

Sassa S and Kappas A. Molecular aspects of the inherited porphyrias. J Intern Med2000; 247:169–178. Cox TM. Erythropoietic protoporphyria. J Inherit Metab Dis1997; 20:258–269. Bloomer J, Wang Y, Singhal A, Risheg H. Molecular studies of liver disease in erythropoietic protoporphyria. J Clin Gastroenterol2005; 39:S167–S175. Gouya L, Puy H, Robreau AM, et al. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wild-type FECH. Nat Genet2002; 30:27–28. Gouya L, Martin-Schmitt C, Robreau AM, et al. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet2006; 78:2–14. Brun A and Sandberg S. Mechanisms of photosensitivity in porphyric patients with special emphasis on erythropoietic protoporphyria. J Photochem Photobiol B1991; 10:285–302. Meerman L. Erythropoietic protoporphyria: an overview with emphasis on the liver. Scand J Gastroenterol Suppl2000;79–85. Schneider-Yin X, Gouya L, Meier-Weinand A, Deybach JC, Minder EI. New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care. Eur J Pediatr2000; 159:719–725. Todd DJ. Erythropoietic protoporphyria. Br J Dermatol1994; 131:751–766. Nakahashi Y, Miyazaki H, Kadota Y, et al. Molecular defect in human erythropoietic protoporphyria with fatal liver failure. Hum Genet1993; 91:303–306. Baart de la Faille H, Bijlmer-Iest JC, van Hattum J, Koningsberger J, Rademakers LH, van Welden H. Erythropoietic protoporphyria: clinical aspects with emphasis on the skin [review]. Curr Problems Dermatol1991; 20:123–134. DeLeo VA, Poh-Fitzpatrick M, Mathews-Roth M, Harber LC. Erythropoietic protoporphyria: 10 years experience. Am J Med1976; 60:8–22. Magness ST, Maeda N, Brenner DA. An exon 10 deletion in the mouse ferrochelatase gene has a dominant-negative effect and causes mild protoporphyria. Blood2002; 100:1470–1477. Tutois S, Montagutelli X, Da Silva V, et al. Erythropoietic protoporphyria in the house mouse: a recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease. J Clin Invest1991; 88:1730–1736. Boulechfar S, Lamoril J, Montagutelli X, et al. Ferrochelatase structural mutant (Fechm1Pas) in the house mouse. Genomics1993; 16:645–648. Richard E, Robert E, Cario-Andre M, et al. Hematopoietic stem cell gene therapy of murine protoporphyria by methylguanine-DNA-methyltransferase-mediated in vivo drug selection. Gene Ther2004; 11:1638–1647. 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 Physiol2005; 288:G1208–G1216. Poulos V and Lockwood WH. A rapid method for estimating red blood cell porphyrin. Int J Biochem1980; 12:1049–1050. Li FM, Lim CK, Peters TJ. An HPLC assay for rat liver ferrochelatase activity. Biomed Chromatogr1987; 2:164–168. Martin ME, Nicolas G, Hetet G, Vaulont S, Grandchamp B, Beaumont C. Transferrin receptor 1 mRNA is downregulated in placenta of hepcidin transgenic embryos. FEBS Lett2004; 574:187–191. Marsden CH and Simmonds RG. Purification of mouse haptoglobin by antibody affinity chromatography and development of an ELISA to measure serum haptoglobin levels. J Immunol Methods1988; 108:53–59. Torrance JD and Bothwell TH. A simple technique for measuring storage iron concentrations in formalinised liver samples. S Afr J Med Sci1968; 33:9–11. Simpson RJ and Peters TJ. Studies of Fe3+ transport across isolated intestinal brush-border membrane of the mouse. Biochim Biophys Acta1984; 772:220–226. Pountney DJ, Raja KB, Simpson RJ, Wrigglesworth JM. The ferric-reducing activity of duodenal brush-border membrane vesicles is associated with a b-type haem. Biometals1999; 12:53–62. Nicolas G, Bennoun M, Devaux I, et al. Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice. Proc Natl Acad Sci U S A2001; 98:8780–8785. Moreau-Gaudry F, Xia P, Jiang G, et al. High-level erythroid-specific gene expression in primary human and murine hematopoietic cells with self-inactivating lentiviral vectors. Blood2001; 98:2664–2672. van Krieken JH, te Velde J, Hermans J, Cornelisse CJ, Welvaart C, Ferrari M. The amount of white pulp in the spleen; a morphometrical study done in methacrylate-embedded splenectomy specimens. Histopathology1983; 7:767–782. Ganz T and Nemeth E. Iron imports, IV: hepcidin and regulation of body iron metabolism. Am J Physiol Gastrointest Liver Physiol2006; 290:G199–G203. McKie AT, Barrow D, Latunde-Dada GO, et al. An iron-regulated ferric reductase associated with the absorption of dietary iron. Science2001; 291:1755–1759. Cook JD. Diagnosis and management of iron-deficiency anaemia. Best Pract Res Clin Haematol2005; 18:319–332. Beamer WG, Pelsue SC, Shultz LD, Sundberg JP, Barker JE. The flaky skin (fsn) mutation in mice: map location and description of the anemia. Blood1995; 86:3220–3226. R'Zik S, Loo M, Beguin Y. Reticulocyte transferrin receptor (TfR) expression and contribution to soluble TfR levels. Haematologica2001; 86:244–251. Bloomer JR, Hill HD, Kools AM, Straka JG. Heme synthesis in protoporphyria. Curr Problems Dermatol1991; 20:135–147. Brun A, Steen H, Sandberg S. Erythropoietic protoporphyria: two populations of reticulocytes, with and without protoporphyrin. Eur J Clin Invest1996; 26:270–278. Mathews-Roth MM. Anemia in erythropoietic protoporphyria [letter]. JAMA1974; 230:824. Rothstein G, Lee R, Cartwright GE. Sideroblastic anemia with dermal photosensitivity and greatly increased erythrocyte protoporphyrin. N Engl J Med1969; 280:587–590. Romslo I, Brun A, Sandberg S, Bottomley SS, Hovding G, Talstad I. Sideroblastic anemia with markedly increased free erythrocyte protoporphyrin without dermal photosensitivity. Blood1982; 59:628–633. Lim HW, Cooper D, Sassa S, Dosik H, Buchness MR, Soter NA. Photosensitivity, abnormal porphyrin profile, and sideroblastic anemia. J Am Acad Dermatol1992; 27:287–292. 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 Invest1993; 23:130–138. Aplin C, Whatley SD, Thompson P, et al. Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells. J Invest Dermatol2001; 117:1647–1649. Turnbull A, Baker H, Vernon-Roberts B, Magnus IA. Iron metabolism in porphyria cutanea tarda and in erythropoietic protoporphyria. Q J Med1973; 42:341–355. Adamsky K, Weizer O, Amariglio N, et al. Decreased hepcidin mRNA expression in thalassemic mice. Br J Haematol2004; 124:123–124. Frazer DM and Anderson GJ. The orchestration of body iron intake: how and where do enterocytes receive their cues? Blood Cells Mol Dis2003; 30:288–297. Fitzsimons EJ and May A. The molecular basis of the sideroblastic anemias. Curr Opin Hematol1996; 3:167–172. Nakajima O, Okano S, Harada H, et al. Transgenic rescue of erythroid 5-aminolevulinate synthase-deficient mice results in the formation of ring sideroblasts and siderocytes. Genes Cells2006; 11:685–700. Bekri S, Kispal G, Lange H, et al. Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. Blood2000; 96:3256–3264. Li J, Kogan M, Knight SA, Pain D, Dancis A. Yeast mitochondrial protein, Nfs1p, coordinately regulates iron-sulfur cluster proteins, cellular iron uptake, and iron distribution. J Biol Chem1999; 274:33025–33034. Hentze MW and Kuhn LC. Molecular control of vertebrate iron metabolism: mRNA-based regulatory circuits operated by iron, nitric oxide, and oxidative stress. Proc Natl Acad Sci U S A1996; 93:8175–8182. Schranzhofer M, Schifrer M, Cabrera JA, et al. Remodeling the regulation of iron metabolism during erythroid differentiation to ensure efficient heme biosynthesis. Blood2006; 107:4159–4167. Milligan A, Graham-Brown RA, Sarkany I, Baker H. Erythropoietic protoporphyria exacerbated by oral iron therapy. Br J Dermatol1988; 119:63–66.