The genetics of inherited sideroblastic anemias

Seminars in Hematology

Volumn 39, Issue 4, 2002, Pages 270-281

  Fleming, Mark D ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HEME; IRON SULFUR PROTEIN; THIAMINE; IRON;

BONE MARROW DISEASE; ERYTHROBLAST; GENE MUTATION; HUMAN; METABOLISM; MITOCHONDRION; OXIDATIVE PHOSPHORYLATION; PEARSON SYNDROME; PRIORITY JOURNAL; REVIEW; SIDEROBLASTIC ANEMIA; X CHROMOSOME LINKED DISORDER; ANIMAL; CLASSIFICATION; ERYTHROID PRECURSOR CELL; FAMILY HEALTH; GENETICS; PATHOLOGY; ULTRASTRUCTURE;

ANEMIA, SIDEROBLASTIC; ANIMALS; ERYTHROID PROGENITOR CELLS; FAMILY HEALTH; GENETIC DISEASES, X-LINKED; HUMANS; IRON; MITOCHONDRIA;

EID: 0036799489     PISSN: 00371963     EISSN: None     Source Type: Journal    
DOI: 10.1053/shem.2002.35637     Document Type: Article

References (104)

1. Abboud MR, Alexander D, Najjar SS: Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase activity. J Pediatr 107:537-541, 1985
2. Adams ML, Ostapiuk I, Grasso JA: The effects of inhibition of heme synthesis on the intracellular localization of iron in rat reticulocytes. Biochim Biophys Acta 1012:243-253, 1989
3. Aivado M, Rong A, Berming U, et al: Skewed X-chromosome inactivation promotes disease manifestation in female members of a family with X-linked sideroblastic anemia. Blood 94:410a, 1999 (suppl 1, abstr)
4. Allikmets R, Raskind WH, Hutchinson A, et al: Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Hum Mol Genet 8:743-749, 1999
5. Amos RJ, Miller AL, Amess JA: Autosomal inheritance of sideroblastic anaemia. Clin Lab Haematol 10:347-353, 1988
6. Andersen K, Kaad PH: Congenital sideroblastic anaemia with intrauterine symptoms and early lethal outcome. Acta Paediatr 81:652-653, 1992
7. Babcock M, de Silva D, Oaks R, et al: Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 276:1709-1712, 1997
8. Bader-Meunier B, Mielot F, Breton-Gorius J, et al: Hematologic involvement in mitochondrial cytopathies in childhood: A retrospective study of bone marrow smears. Pediatr Res 46:158-162, 1999
9. Beinert H, Holm RH, Munck E: Iron-sulfur clusters: Nature's modular, multipurpose structures. Science 277:653-659, 1997
10. 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. Blood 96:3256-3264, 2000
11. Belmont JW: Genetic control of X inactivation and processes leading to X-inactivation skewing. Am J Hum Genet 58: 1101-1108, 1996
12. Bernes SM, Bacino C, Prezant TR, et al: Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome. J Pediatr 123:598-602, 1993
13. Bernstein SE: Hereditary hypotransferrinemia with hemosiderosis, a murine disorder resembling human atransferrinemia. J Lab Clin Med 110:690-705, 1987
14. Borgna-Pignatti C, Marradi P, Pinelli L, et al: Thiamineresponsive anemia in DIDMOAD syndrome. J Pediatr 114: 405-410, 1989
15. Bottomley S, Wise RJ, Wasson EG, et al: X-linked sideroblastic anemia in ten female probands due to ALAS2 mutations and skewed X chromosome inactivation. Am J Hum Genet 63:A352, 1998
16. Bottomley SS, May BK, Cox TC, et al: Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia. J Bioenerg Biomembr 27:161-168, 1995
17. Bottomley SS, Wise PD, Wasson EG, et al: X-linked sideroblastic anemia due to mutation of erythroid 5-aminolevulinate synthase manifested in females. Blood 88:144a, 1996 (suppl 1, abstr)
18. Bottomley SS: Sideroblastic anemias, in Lee GR (ed): Wintrobe's Clinical Hematology. Baltimore, MD, Williams & Wilkins; 1999, pp 1022-1045
19. Brien WF, Mant MJ, Etches WS: Variant congenital dyserythropoietic anaemia with ringed sideroblasts. Clin Lab Haematol 7:231-237, 1985
20. Brownlie A, Donovan A, Pratt SJ, et al: Positional cloning of the zebrafish sauternes gene: A model for congenital sideroblastic anaemia. Nat Genet 20:244-250, 1998
21. Cazzola M, May A, Bergamaschi G, et al: Familial-skewed X-chromosome inactivation as a predisposing factor for lateonset X-linked sideroblastic anemia in carrier females. Blood 96:4363-4365, 2000
22. Cooley TB: A severe type of hereditary anemia with elliptocytosis. Interesting sequence of splenectomy. Am J Med Sci 209:561-568, 1945
23. Cotter PD, Baumann M, Bishop DF: Enzymatic defect in "X-linked" sideroblastic anemia: Molecular evidence for erythroid delta-aminolevulinate synthase deficiency. Proc Natl Acad Sci USA 89:4028-4032, 1992
24. Cotter PD, Rucknagel DL, Bishop DF: X-linked sideroblastic anemia: Identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley. Blood 84:3915-3924, 1994
25. Cotter PD, May A, Fitzsimons EJ, et al: Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts. J Clin Invest 96:2090-2096, 1995
26. Cotter PD, May A, Li L, et al: Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: Increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. Blood 93:1757-1769, 1999
27. Cox TC, Bottomley SS, Wiley JS, et al: X-linked pyridoxineresponsive sideroblastic anemia due to a Thr388-to- Ser substitution in erythroid 5-aminolevulinate synthase. N Engl J Med 330:675-679, 1994
28. Csere P, Lill R, Kispal G: Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p. FEBS Lett 441:266-270, 1998
29. Diaz GA, Banikazemi M, Oishi K, et al: Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. Nat Genet 22: 309-312, 1999
30. Dürr A, Cossee M, Agid Y, et al: Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 335:1169-1175, 1996
31. Edgar AJ, Losowsky MS, Noble JS, et al: Identification of an arginine 452 to histidine substitution in the erythroid 5-aminolaevulinate synthetase gene in a large pedigree with X-linked hereditary sideroblastic anaemia. Eur J Haematol 58:1-4, 1997
32. Edgar AJ, Vidyatilake HM, Wickramasinghe SN: X-linked sideroblastic anaemia due to a mutation in the erythroid 5-aminolaevulinate synthase gene leading to an arginine 170 to leucine substitution. Eur J Haematol 61:55-58, 1998
33. Edgar AJ, Wickramasinghe SN: Hereditary sideroblastic anaemia due to a mutation in exon 10 of the erythroid 5-aminolaevulinate synthase gene. Br J Haematol 100:389-392, 1998
34. Ferreira GC, Vajapey U, Hafez O, et al: Aminolevulinate synthase: Lysine 313 is not essential for binding the pyridoxal phosphate cofactor but is essential for catalysis. Prot Sci 4:1001-1006, 1995
35. Fleming JC, Tartaglini E, Steinkamp MP, et al: The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. Nat Genet 22:305-308, 1999
36. Fleming MD, Romano MA, Su MA, et al: Nramp2 is mutated in the anemic Belgrade (b) rat: Evidence of a role for Nramp2 in endosomal iron transport. Proc Natl Acad Sci USA 95: 1148-1153, 1998
37. Fleming MD, Campagna DR, Haslett JN, et al: A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hematologic and skeletal phenotype of flexed-tail (f/f) mice. Genes Dev 15:652-657, 2001
38. Friedman JS, Rebel VI, Derby R, et al: Absence of mitochondrial superoxide dismutase results in a murine hemolytic anemia responsive to therapy with a catalytic antioxidant. J Exp Med 193:925-934, 2001
39. Furuyama K, Fujita H, Nagai T, et al: Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene. Blood 90: 822-830, 1997
40. Furuyama K, Uno R, Urabe A, et al: R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity. Br J Haematol 103:839-841, 1998
41. Furuyama K, Sassa S: Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia. J Clin Invest 105:757-764, 2000
42. Furuyama K, Sassa S: Multiple mechanisms for hereditary sideroblastic anemia. Cell Mol Biol 48:5-10, 2002
43. Gatterman N, Retzlaff S, Wang Y-L, et al: Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia. Blood 90:4961-4972, 1997
44. Gong J, Ferreira GC: Aminolevulinate synthase: Functionally important residues at a glycine loop, a putative pyridoxal phosphate cofactor-binding site. Biochemistry 34: 1678-1685, 1995
45. Gong J, Kay CJ, Barber MJ, et al: Mutations at a glycine loop in aminolevulinate synthase affect pyridoxal phosphate cofactor binding and catalysis. Biochemistry 35:14109-14117, 1996
46. Gong J, Hunter GA, Ferreira GC: Aspartate-279 in aminolevulinate synthase affects enzyme catalysis through enhancing the function of the pyridoxal 5′-phosphate cofactor. Biochemistry 37:3509-3517, 1998
47. Gonzalez MI, Caballero D, Vazquez L, et al: Allogeneic peripheral stem cell transplantation in a case of hereditary sideroblastic anaemia. Br J Haematol 109:658-660, 2000
48. Hardy C, Khanim F, Torres R, et al: Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. Am J Hum Genet 65:1279-1290, 1999
49. Harigae H, Furuyama K, Kimura A, et al: A novel mutation of the erythroid-specific delta-aminolaevulinate synthase gene in a patient with X-linked sideroblastic anaemia. Br J Haematol 106:175-177, 1999
50. Harriss JW, Whittington RM, Weisman R, et al: Pyridoxineresponsive anemia in the human adult. Proc Soc Exp Biol Med 91:427-432, 1956
51. Haworth C, Evans DI, Mitra J, et al: Thiamine responsive anaemia: A study of two further cases. Br J Haematol 50:549- 561, 1982
52. Hellier KD, Hatchwell E, Duncombe AS, et al: X-linked sideroblastic anaemia with ataxia: Another mitochondrial disease? J Neurol Neurosurg Psychiatry 70:65-69, 2001
53. Inbal A, Avissar N, Shaklai M, et al: Myopathy, lactic acidosis, and sideroblastic anemia: A new syndrome. Am J Med Genet 55:372-378, 1995
54. Jardine PE, Cotter PD, Johnson SA, et al: Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: Exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis. J Med Genet 31:213-218, 1994
55. Joosten E, van den Berg A, Riezler R, et al: Metabolic evidence that deficiencies of vitamin B-12 (cobalamin), folate, and vitamin B-6 occur commonly in elderly people. Am J Clin Nutr 58:468-476, 1993
56. Kardos G, Veerman AJ, de Waal FC, et al: Familial sideroblastic anemia with emergence of monosomy 5 and myelodysplastic syndrome. Med Pediatr Oncol 26:54-56, 1996
57. Kasturi J, Basha HM, Smeda SH, et al: Hereditary sideroblastic anaemia in 4 siblings of a Libyan family-Autosomal inheritance. Acta Haematol 68:321-324, 1982
58. Kispal G, Csere P, Guiard B, et al: The ABC transporter Atm1p is required for mitochondrial iron homeostasis. FEBS Lett 418:346-350, 1997
59. Kispal G, Csere P, Prohl C, et al: The mitochondrial proteins Atm1p and Nfs1p are essential for biogenesis of cytosolic Fe/S proteins. EMBO J 18:3981-3989, 1999
60. Labay V, Raz T, Baron D, et al: Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. Nat Genet 22:300-304, 1999
61. Lange H, Kispal G, Lill R: Mechanism of iron transport to the site of heme synthesis inside yeast mitochondria. J Biol Chem 274:18989-18996, 1999
62. Lathrop JT, Timko MP: Regulation by heme of mitochondrial protein transport through a conserved amino acid motif. Science 259:522-525, 1993
63. Leighton J, Schatz G: An ABC transporter in the mitochondrial inner membrane is required for normal growth of yeast. EMBO J 14:188-195, 1995
64. Levy JE, Jin O, Fujiwara Y, et al: Transferrin receptor is necessary for development of erythrocytes and the nervous system. Nat Genet 21:396-399, 1999
65. , Lill R, Diekert K, Kaut A, et al: The essential role of mitochondria in the biogenesis of cellular iron-sulfur proteins. Biol Chem 380:1157-1166, 1999
66. Lok CN, Loh TT: Regulation of transferrin function and expression: Review and update. Biol Signals Recept 7:157-178, 1998
67. Maguire A, Hellier K, Hammans S, et al: X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. Br J Haematol 115:910-917, 2001
68. Mathews-Roth MM: Anemia in erythropoietic protoporphyria. J Am Med Assoc 230:824, 1974 (letter)
69. May A, Bishop DF: The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia. Haematologica 83:56-70, 1998
70. MITOMAP: A human mitochondrial genome database (www.gen.emory.edu/mitomap). Atlanta, GA, Center for Molecular Medicine, Emory University, 2001
71. Mitsuhashi N, Miki T, Senbongi H, et al: MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis. J Biol Chem 275:17536-17540, 2000
72. Mollin DL: Sideroblasts and sideroblastic anemia. Br J Haematol 11:41-48, 1965
73. Muckenthaler M, Hentze MW: Mechanisms for posttranscriptional regulation by iron-responsive elements and iron regulatory proteins. Prog Mol Subcell Biol 18:93-115, 1997
74. Muhlenhoff U, Lill R: Biogenesis of iron-sulfur proteins in eukaryotes: A novel task of mitochondria that is inherited from bacteria. Biochim Biophys Acta 1459:370-382, 2000
75. Nakajima O, Takahashi S, Harigae H, et al: Heme deficiency in erythroid lineage causes differentiation arrest and cytoplasmic iron overload. EMBO J 18:6282-6289, 1999
76. Neufeld EJ, Mandel H, Raz T, et al: Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping. Am J Hum Genet 61:1335-1341, 1997
77. Neufeld EJ, Fleming JC, Tartaglini E, et al: Thiamine-responsive megaloblastic anemia syndrome: A disorder of high-affinity thiamine transport. Blood Cells Mol Dis 27: 135-138, 2001
78. Okajima K, Ito T, Wakita A, et al: Male siblings with dyserythropoieis, microcephaly and growth retardation. Clin Dysmorphol 11:107-111, 2002
79. Pagon RA, Bird TD, Detter JC, et al: Hereditary sideroblastic anaemia and ataxia: An X linked recessive disorder. J Med Genet 22:267-273, 1985
80. Pearson HA, Lobel JS, Kocoshis SA, et al: A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr 95:976-984, 1979
81. Prades E, Chambon C, Dailey TA, et al: A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia. Hum Genet 95:424-428, 1995
82. Puccio H, Simon D, Cossee M, et al: Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat Genet 27:181-186, 2001
83. Rademakers LH, Koningsberger JC, Sorber CW, et al: Accumulation of iron in erythroblasts of patients with erythropoietic protoporphyria. Eur J Clin Invest 23:130-138, 1993
84. Radisky DC, Babcock MC, Kaplan J: The yeast frataxin homologue mediates mitochondrial iron efflux. Evidence for a mitochondrial iron cycle. J Biol Chem 274:4497-4499, 1999
85. Rajgopal A, Edmondnson A, Goldman ID, et al: SLC19A3 encodes a second thiamine transporter ThTr2. Biochim Biophys Acta 1537:175-178, 2001
86. Raskind WH, Wijsman E, Pagon RA, et al: X-linked sideroblastic anemia and ataxia: Linkage to phosphoglycerate kinase at Xq13. Am J Hum Genet 48:335-341, 1991
87. Rawles JM, Weller RO: Familial association of metabolic myopathy, lactic acidosis and sideroblastic anemia. Am J Med 56:891-897, 1974
88. Raz T, Labay V, Baron D, et al: The spectrum of mutations, including four novel ones, in the thiamine- responsive megaloblastic anemia gene SLC19A2 of eight families. Hum Mutat 16:37-42, 2000
89. Rogers LE, Porter FS, Sidbury JB Jr: Thiamine-responsive megaloblastic anemia. J Pediatr 74:494-504, 1969
90. Romslo I, Husby P: Iron, porphyrin and heme transport in mitochondria. Int J Biochem 12:709-712, 1980
91. Rotig A, Bourgeron T, Chretien D, et al: Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum Mol Genet 4:1327-1330, 1995
92. Rotig A, de Lonlay P, Chretien D, et al: Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet 17:215-217, 1997
93. Rundles RW, Falls HF: Hereditary (? sex-linked) anemia. Am J Med Sci 211:641-658, 1946
94. Sadlon TJ, Dell'Oso T, Surinya KH, et al: Regulation of erythroid 5-aminolevulinate synthase expression during erythropoiesis. Int J Biochem Cell Biol 31:1153-1167, 1999
95. Schneider-Yin X, Gouya L, Meier-Weinand A, et al: New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care. Eur J Pediatr 159: 719-725, 2000
96. Scott AJ, Ansford AJ, Webster BH, et al: Erythropoietic protoporphyria with features of a sideroblastic anaemia terminating in liver failure. Am J Med 54:251-259, 1973
97. Shimada Y, Okuno S, Kawai A, et al: Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia. Hum Genet 43:115-122, 1998
98. Smith OP, Hann IM, Woodward CE, et al: Pearson's marrow/ pancreas syndrome: Haematological features associated with deletion and duplication of mitochondrial DNA. Br J Haematol 90:469-472, 1995
99. Soslau G, Brodsky I: Hereditary sideroblastic anemia with associated platelet abnormalities. Am J Hematol 32:298-304, 1989
100. Stagg AR, Fleming JC, Baker MA, et al: Defective high-affinity thiamine transporter leads to cell death in thiamineresponsive megaloblastic anemia syndrome fibroblasts. J Clin Invest 103:723-729, 1999
101. Tan D, Ferreira GC: Active site of 5-aminolevulinate synthase resides at the subunit interface. Evidence from in vivo heterodimer formation. Biochemistry 35:8934-8941, 1996
102. Tan D, Barber MJ, Ferreira GC: The role of tyrosine 121 in cofactor binding of 5-aminolevulinate synthase. Prot Sci 7:1208-1213, 1998
103. Tuckfield A, Ratnaike S, Hussein S, et al: A novel form of hereditary sideroblastic anaemia with macrocytosis. Br J Haematol 97:279-285, 1997
104. van Waveren Hogervorst GD, van Roermund HPC, Snijders PJ: Hereditary sideroblastic anaemia and autosomal inheritance of erythrocyte dimorphism in a Dutch family. Eur J Haematol 38:405-409, 1987