Page 946 - Williams Hematology ( PDFDrive )
P. 946

920  Part VI:  The Erythrocyte                 Chapter 59:  Polyclonal and Hereditary Sideroblastic Anemias           921




                    23.  Bessis MC, Jensen WN: Sideroblastic anaemia, mitochondria and erythroblastic iron.     58.  Jardine PE, Cotter PD, Johnson SA, et al: Pyridoxine-refractory congenital sideroblastic
                     Br J Haematol 11:49–51, 1965.                         anaemia with evidence for autosomal inheritance: Exclusion of linkage to ALAS2 at
                    24.  Griggs RC: Lead poisoning: Hematologic aspects. Prog Hematol 4:117–137, 1964.  Xp11.21 by polymorphism analysis. J Med Genet 31(3):213–218, 1994.
                    25.  Jensen WN, Moreno G: [The ribosomes and basophilic granulations of erythrocytes in     59.  Goodman JR, Hall SG: Accumulation of iron in mitochondria of erythroblasts. Br J
                     lead poisoning] [in French]. C R Hebd Seances Acad Sci 258:3596–3597, 1964.  Haematol 13(3):335–340, 1967.
                    26.  Jensen WN, Moreno GD, Bessis MC: An electron microscopic description of basophilic     60.  Kushner JP, Barbuto AJ, Lee GR: An inherited enzymatic defect in porphyria cutanea
                     stippling in red cells. Blood 25:933–943, 1965.       tarda: Decreased uroporphyrinogen decarboxylase activity. J Clin Invest 58(5):1089–1097,
                    27.  Gehrmann G: Pyridoxine-responsive anaemias. Br J Haematol 11:86–91, 1965.  1976.
                    28.  Harris JW, Whittington RM, Weisman R Jr, et al: Pyridoxine responsive anemia in the     61.  Chauhan MS, Dakshinamurti K: Fluorometric assay of B6 vitamers in biological
                     human adult. Proc Soc Exp Biol Med 91(3):427–432, 1956.  material. Clin Chim Acta 109(2):159–167, 1981.
                    29.  Horrigan DL, Harris JW: Pyridoxine-responsive anemias in man. Vitam Horm 26:549–    62.  Lee GR, Cartwright GE, Wintrobe MM: The response of free erythrocyte protoporphy-
                     571, 1968.                                            rin to pyridoxine therapy in a patient with sideroachrestic (sideroblastic) anemia. Blood
                    30.  Cartwright GE, Deiss A: Sideroblasts, siderocytes, and sideroblastic anemia. N Engl J   27(4):557–567, 1966.
                     Med 292(4):185–193, 1975.                            63.  Pasanen AV, Salmi M, Vuopio P, et al: Heme biosynthesis in sideroblastic anemia. Int J
                    31.  Hammond E, Deiss A, Carnes WH, et al: Ultrastructural characteristics of siderocytes   Biochem 12(5–6):969–974, 1980.
                     in swine. Lab Invest 21(4):292–297, 1969.            64.  Pasanen AV, Eklof M, Tenhunen R: Coproporphyrinogen oxidase activity and porphy-
                    32.  Koc S, Harris JW: Sideroblastic anemias: Variations on imprecision in diagnostic cri-  rin concentrations in peripheral red blood cells in hereditary sideroblastic anaemia.
                     teria, proposal for an extended classification of sideroblastic anemias. Am J Hematol   Scand J Haematol 34(3):235–237, 1985.
                     57(1):1–6, 1998.                                     65.  Wiseman DH, May A, Jolles S, et al: A novel syndrome of congenital sideroblastic ane-
                    33.  Fleming MD: The genetics of inherited sideroblastic anemias.  Semin Hematol   mia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Blood
                     39(4):270–281, 2002.                                  122(1):112–123, 2013.
                    34.  Furuyama K, Sassa S: Multiple mechanisms for hereditary sideroblastic anemia. Cell     66.  Barton JR, Shaver DC, Sibai BM: Successive pregnancies complicated by idiopathic
                     Mol Biol (Noisy-le-grand) 48(1):5–10, 2002.           sideroblastic anemia. Am J Obstet Gynecol 166(2):576–577, 1992.
                    35.  Garby L, Sjolin S, Vahlquist B: Chronic refractory hypochromic anaemia with dis-    67.  Pignon JM, Breton-Gorius J, Bachir D, Rochant H: Congenital sideroblastic anemia
                     turbed haem-metabolism. Br J Haematol 3(1):55–67, 1957.  without clinical iron overload. A case report. Nouv Rev Fr Hematol 32(4):281–284, 1990.
                    36.  Konopka L, Hoffbrand AV: Haem synthesis in sideroblastic anaemia. Br J Haematol     68.  Murakami R, Takumi T, Gouji J, et al: Sideroblastic anemia showing unique response to
                     42(1):73–83, 1979.                                    pyridoxine. Am J Pediatr Hematol Oncol 13(3):345–350, 1991.
                    37.  Lee GR, MacDiarmid WD, Cartwright GE, et al: Hereditary, X-linked, sideroachrestic     69.  Mason DY, Emerson PM: Primary acquired sideroblastic anaemia: Response to treat-
                     anemia. The isolation of two erythrocyte populations differing in Xga blood type and   ment with pyridoxal-5-phosphate. Br Med J 1(5850):389–390, 1973.
                     porphyrin content. Blood 32(1):59–70, 1968.          70.  Chillar RK, Johnson CS, Beutler E: Erythrocyte pyridoxine kinase levels in patients
                    38.  McColl KE, Thompson GG, Moore MR, et al: Acute ethanol ingestion and haem bio-  with sideroblastic anemia. N Engl J Med 295(16):881–883, 1976.
                     synthesis in healthy subjects. Eur J Clin Invest 10(2 Pt 1):107–112, 1980.    71.  Nishibe H, Yamagata K, Goto H: A case of sideroblastic anaemia associated with
                    39.  Pasanen AV, Vuopio P, Borgstrom GH, et al: Haem biosynthesis in refractory siderob-  marked  elevation  of  erythrocytic arginase activity.  Scand J  Haematol 15(1):17–21,
                     lastic anaemia associated with the preleukaemic syndrome. Scand J Haematol 27(1):35–  1975.
                     44, 1981.                                            72.  Valentine  WN,  Konrad  PN,  Paglia  DE:  Dyserythropoiesis,  refractory  anemia,  and
                    40.  Tanaka M, Bottomley SS: Bone marrow delta-aminolevulinic acid synthetase activity in   “preleukemia:” metabolic features of the erythrocytes. Blood 41(6):857–875, 1973.
                     experimental sideroblastic anemia. J Lab Clin Med 84(1):92–98, 1974.    73.  Ritchey AK, Hoffman R, Dainiak N, et al: Antibody-mediated acquired sideroblastic
                    41.  Vogler WR, Mingioli ES: Porphyrin synthesis and heme synthetase activity in pyridox-  anemia: Response to cytotoxic therapy. Blood 54(3):734–741, 1979.
                     ine-responsive anemia. Blood 32(6):979–988, 1968.    74.  Rochant H, Dreyfus B, Bouguerra M, Tont-Hat H: Hypothesis: Refractory anemias,
                    42.  Heilmeyer L: Disturbances in Heme Synthesis. Charles C. Thomas, Springfield, IL, 1966.  preleukemic conditions, and fetal erythropoiesis. Blood 39(5):721–726, 1972.
                    43.  Kushner JP, Lee GR, Wintrobe MM, et al: Idiopathic refractory sideroblastic anemia:     75.  Geschke W, Beutler E: Refractory sideroblastic and nonsideroblastic anemia: A review
                     Clinical and laboratory investigation of 17 patients and review of the literature. Medi-  of 27 cases. West J Med 127(2):85–92, 1977.
                     cine (Baltimore) 50(3):139–159, 1971.                76.  Napier I, Ponka P, Richardson DR: Iron trafficking in the mitochondrion: Novel path-
                    44.  Cotter PD, Baumann M, Bishop DF: Enzymatic defect in “X-linked” sideroblastic ane-  ways revealed by disease. Blood 105(5):1867–1874, 2005.
                     mia: Molecular evidence for erythroid delta-aminolevulinate synthase deficiency. Proc     77.  Pandolfo M: Frataxin deficiency and mitochondrial dysfunction.  Mitochondrion 2
                     Natl Acad Sci U S A 89(9):4028–4032, 1992.            (1–2):87–93, 2002.
                    45.  Bottomley SS: Congenital sideroblastic anemias. Curr Hematol Rep 5(1):41–49, 2006.    78.  Ponka P: Tissue-specific regulation of iron metabolism and heme synthesis: Distinct
                    46.  Fleming MD: Congenital sideroblastic anemias: Iron and heme lost in mitochondrial   control mechanisms in erythroid cells. Blood 89(1):1–25, 1997.
                     translation. Hematology Am Soc Hematol Educ Program 2011:525–531, 2011.    79.  Adams ML, Ostapiuk I, Grasso JA: The effects of inhibition of heme synthesis on the
                    47.  Guernsey DL, Jiang H, Campagna DR, et al: Mutations in mitochondrial carrier fam-  intracellular localization of iron in rat reticulocytes.  Biochim Biophys Acta 1012(3):
                     ily gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic    243–253, 1989.
                     anemia. Nat Genet 41(6):651–653, 2009.               80.  Borova J, Ponka P, Neuwirt J: Study of intracellular iron distribution in rabbit reticulo-
                    48.  Allikmets R, Raskind WH, Hutchinson A, et al: Mutation of a putative mitochondrial   cytes with normal and inhibited heme synthesis. Biochim Biophys Acta 320(1):143–156,
                     iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).   1973.
                     Hum Mol Genet 8(5):743–749, 1999.                    81.  Ponka  P,  Wilczynska  A,  Schulman  HM:  Iron  utilization  in  rabbit  reticulocytes.  A
                    49.  Hellier KD, Hatchwell E, Duncombe AS, et al: X-linked sideroblastic anaemia with   study using succinylacetone as an inhibitor or heme synthesis. Biochim Biophys Acta
                     ataxia: Another mitochondrial disease?  J Neurol Neurosurg Psychiatry 70(1):65–69,   720(1):96–105, 1982.
                     2001.                                                82.  Richardson DR, Ponka P, Vyoral D: Distribution of iron in reticulocytes after inhibition
                    50.  Pagon RA, Bird TD, Detter JC, et al: Hereditary sideroblastic anaemia and ataxia: An   of heme synthesis with succinylacetone: Examination of the intermediates involved in
                     X-linked recessive disorder. J Med Genet 22(4):267–273, 1985.  iron metabolism. Blood 87(8):3477–3488, 1996.
                    51.  Raskind WH, Wijsman E, Pagon RA, et al: X-linked sideroblastic anemia and ataxia:     83.  Harrison PM, Arosio P: The ferritins: Molecular properties, iron storage function and
                     Linkage to phosphoglycerate kinase at Xq13.  Am J Hum Genet 48(2):335–341,     cellular regulation. Biochim Biophys Acta 1275(3):161–203, 1996.
                     1991.                                                84.  Shaw GC, Cope JJ, Li L, et al: Mitoferrin is essential for erythroid iron assimilation.
                    52.  Maguire A, Hellier K, Hammans S, et al: X-linked cerebellar ataxia and sideroblastic   Nature 440(7080):96–100, 2006.
                     anaemia associated with a missense mutation in the ABC7 gene predicting V411L. Br J     85.  Ajioka RS, Phillips JD, Kushner JP: Biosynthesis of heme in mammals. Biochim Biophys
                     Haematol 115(4):910–917, 2001.                        Acta 1763(7):723–736, 2006.
                    53.  Shimada Y, Okuno S, Kawai A, et al: Cloning and chromosomal mapping of a novel     86.  Ponka P, Sheftel AD, Zhang AS: Iron targeting to mitochondria in erythroid cells.
                     ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with   Biochem Soc Trans 30(4):735–738, 2002.
                     spinocerebellar ataxia. J Hum Genet 43(2):115–122, 1998.    87.  Sheftel AD, Zhang AS, Brown C, et al: Direct interorganellar transfer of iron from endo-
                    54.  Broker S, Meunier B, Rich P, et al: MtDNA mutations associated with sideroblas-  some to mitochondrion. Blood 110(1):125–132, 2007.
                     tic anaemia cause a defect of mitochondrial cytochrome c oxidase.  Eur J Biochem     88.  Zhang AS, Sheftel AD, Ponka P: Intracellular kinetics of iron in reticulocytes: Evidence
                     258(1):132–138, 1998.                                 for endosome involvement in iron targeting to mitochondria. Blood 105(1):368–375,
                    55.  Gattermann N, Retzlaff S, Wang YL, et al: Heteroplasmic point mutations of mitochon-  2005.
                     drial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired     89.  Cox TM, O’Donnell MW, Aisen P, et al: Hemin inhibits internalization of transferrin
                     idiopathic sideroblastic anemia. Blood 90(12):4961–4972, 1997.  by reticulocytes and promotes phosphorylation of the membrane transferrin receptor.
                    56.  Seneca S, De Meirleir L, De Schepper J, et al: Pearson marrow pancreas syndrome: A   Proc Natl Acad Sci U S A 82(15):5170–5174, 1985.
                     molecular study and clinical management. Clin Genet 51(5):338–342, 1997.    90.  Iacopetta B, Morgan E: Heme inhibits transferrin endocytosis in immature erythroid
                    57.  Casas K, Bykhovskaya Y, Mengesha E, et al: Gene responsible for mitochondrial myop-  cells. Biochim Biophys Acta 805(2):211–216, 1984.
                     athy and sideroblastic anemia (MSA) maps to chromosome 12q24.33. Am J Med Genet     91.  Ponka P, Neuwirt J: Regulation of iron entry into reticulocytes. I. Feedback inhibitory
                     A 127A(1):44–49, 2004.                                effect of heme on iron entry into reticulocytes and on heme synthesis. Blood 33(5):
                                                                           690–707, 1969.





          Kaushansky_chapter 59_p0915-0922.indd   921                                                                   9/17/15   3:18 PM
   941   942   943   944   945   946   947   948   949   950   951