Genetic disorders affecting proteins of iron metabolism: Clinical implications

Annual Review of Medicine

Volumn 51, Issue , 2000, Pages 443-464

  Sheth, Sujit ^a   Brittenham, Gary M ^a  

^a College of Physicians and Surgeons ^*  (United States)

Author keywords

Ceruloplasmin; Ferritin; Frataxin; Hemochromatosis; Transferrin

Indexed keywords

CERULOPLASMIN; FERRITIN; IRON; TRANSFERRIN;

FRIEDREICH ATAXIA; GENETIC DISORDER; HEMOCHROMATOSIS; HYPERFERRITINEMIA; IRON METABOLISM; IRON STORAGE; IRON TRANSPORT; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REVIEW; SIDEROBLASTIC ANEMIA;

CERULOPLASMIN; HEMOCHROMATOSIS; HUMANS; IRON; METABOLIC DISEASES; RECEPTORS, TRANSFERRIN; TRANSFERRIN;

EID: 0034006860     PISSN: 00664219     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.med.51.1.443     Document Type: Review

References (121)

1. 1. Ponka P, Beaumont C, Richardson DR. 1998. Function and regulation of transferrin and ferritin. Semin. Hematol. 35:35-54
2. 2. Feder JN, Penny DM, Irrinki A, et al. 1998. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc. Natl. Acad. Sci. USA 95:1472-77
3. 3. Lebron JA, Bennett MJ, Vaughn DE, et al. 1998. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell 93:111-23
4. 4. Roy CN, Penny DM, Feder JN, Enns DA. 1999. The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells. J. Biol. Chem. 274:9022-28
5. 5. Salter-Cid L, Brunmark A, Li Y, et al. 1999. Transferrin receptor is negatively modulated by the hemochromatosis protein HFE: implications for cellular iron homeostasis. Proc. Natl. Acad. Sci. USA 96:5434-39
6. 6. Fleming MD, Romano MA, Su MA, et al. 1998. Nramp2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport. Proc. Natl. Acad. Sci. USA 95:1148-53
7. 7. Gruenheid S, Canonne-Hergaux F, Gauthier S, et al. 1999. The iron transport protein NRAMP2 is an integral membrane glycoprotein that colocalizes with transferrin in recycling endosomes. J. Exp. Med. 189:831-41
8. 8. Harrison PM, Arosio P. 1996. The ferritins: molecular properties, iron storage function and cellular regulation. Biochem. Biophys. Acta 1275:161-203
9. 9. Hentze MW, Kuhn LC. 1996. Molecular control of vertebrate iron metabolism: mRNA-based regulatory circuits operated by iron, nitric oxide, and oxidative stress. Proc. Natl. Acad. Sci. USA 93: 8175-82
10. 10. Rouault T, Klausner R. 1997. Regulation of iron metabolism in eukaryotes. Curr. Top. Cell Regul. 35:1-19
11. 11. Gitlin JD. 1998. Aceruloplasminemia. Pediatr. Res. 44:271-76
12. 12. de Silva DM, Askwith CC, Kaplan J. 1996. Molecular mechanisms of iron uptake in eukaryotes. Physiol. Rev. 76: 31-47
13. 13. Mukhopadhyay CK, Attieh ZK, Fox PL. 1998. Role of ceruloplasmin in cellular iron uptake. Science 279:714-17
14. 14. Attieh ZK, Mukhopadhyay CK, Seshadri V, et al. 1999. Ceruloplasmin ferroxidase activity stimulates cellular iron uptake by a trivalent cation-specific transport mechanism. J. Biol. Chem. 274:1116-23
15. 15. Gutierrez JA, Yu J, Rivera S, Wessling-Resnick M. 1997. Functional expression cloning and characterization of SFT, a stimulator of Fe transport. J. Cell Biol. 139:895-905
16. 16. Gutierrez JA, Yu J, Wessling-Resnick M. 1998. Characterization and chromosomal mapping of the human gene for SFT, a stimulator of Fe transport. Biochem. Biophys. Res. Commun. 253: 739-42
17. 17. Yu J, Wessling-Resnick M. 1998. Structural and functional analysis of SFT, a stimulator of Fe transport. J. Biol. Chem. 273:21380-85
18. 18. Fleming MD, Trenor CC III, Su MA, et al. 1997. Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene. Nat. Genet. 16:383-86
19. 19. Vulpe CD, Kuo YM, Murphy TL, et al. 1999. Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse. Nat. Genet. 21:195-99
20. 20. Babcock M, de Silva D, Oaks R, et al. 1997. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 276:1709-12
21. 21. Radisky DC, Babcock MC, Kaplan J. 1999. The yeast frataxin homologue mediates mitochondrial iron efflux. Evidence for a mitochondrial iron cycle. J. Biol. Chem. 274:4497-99
22. 22. Shimada Y, Okuno S, Kawai A, et al. 1998. Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia. J. Hum. Genet. 43:115-22
23. 23. Allikmets R, Raskind WH, Hutchinson A, et al. 1999. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Hum. Mol. Genet. 8:743-49
24. 24. Aisen P. 1998. Transferrin, the transferrin receptor, and the uptake of iron by cells. Met. Ions Biol. Syst. 35:585-631
25. 24a. Kawabata H, Yang R, Hirama T, et al. 1999. Molecular cloning of transferrin receptor 2. A new member of the transferrin receptor-like family. J. Biol. Chem. 274:20826-32
26. 25. Cotner T, Gupta AD, Papayannopoulou T, Stamatoyannopoulos G. 1989. Characterization of a novel form of transferrin receptor preferentially expressed on normal erythroid progenitors and precursors. Blood 73:214-21
27. 26. Santambrogio P, Levi S, Cozzi A, et al. 1996. Evidence that the specificity of iron incorporation into homopolymers of human ferritin L- and H-chains is conferred by the nucleation and ferroxidase centres. Biochem. J. 314:139-44
28. 27. Rouault TA, Klausner RD. 1996. Iron-sulfur clusters as biosensors of oxidants and iron. Trends Biochem. Sci. 21:174-77
29. 28. Iwai K, Drake SK, Wehr NB, et al. 1998. Iron-dependent oxidation, ubiquitination, and degradation of iron regulatory protein 2: implications for degradation of oxidized proteins. Proc. Natl. Acad. Sci. USA 95:4924-28
30. 29. Cairo G, Castrusini E, Minotti G, Bernelli-Zazzera A. 1996. Superoxide and hydrogen peroxide-dependent inhibition of iron regulatory protein activity: a protective stratagem against oxidative injury. FASEB J. 10:1326-35
31. 29a. Weiss G, Houston T, Kastner S, et al. 1997. Regulation of cellular iron metabolism by erythropoietin: activation of iron-regulatory protein and upregulation of transferrin receptor expression in erythroid cells. Blood 89:680-87
32. 30. Kim HY, LaVaute T, Iwai K, et al. 1996. Identification of a conserved and functional iron-responsive element in the 5′-untranslated region of mammalian mitochondrial aconitase. J. Biol. Chem. 271:24226-30
33. 31. Feder JN, Gnirke A, Thomas W, et al. 1996. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat. Genet. 13:399-408
34. 32. de Sousa M. 1992. T lymphocytes and iron overload: novel correlations of possible significance to the biology of the immunological system. Mem. Inst. Oswaldo Cruz 87(Suppl. 5):23-29
35. 33. de Sousa M, Reimao R, Lacerda R, et al. 1994. Iron overload in beta 2-microglobulin-deficient mice. Immunol. Lett. 39: 105-11
36. 34. Santos M, Schilham MW, Rademakers LH, et al. 1996. Defective iron homeostasis in beta 2-microglobulin knockout mice recapitulates hereditary hemochromatosis in man. J. Exp. Med. 184:1975-85
37. 35. Waheed A, Parkkila S, Saarnio J, et al. 1999. Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum. Proc. Natl. Acad. Sci. USA 96:1579-84
38. 36. Han O, Fleet JC, Wood RJ. 1999. Reciprocal regulation of HFE and NNamp2 gene expression by iron in human intestinal cells. J. Nutr. 129:98-104
39. 37. Porto G, Alves H, Rodrigues P, et al. 1998. Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis. Immunogenetics 47:404-10
40. 38. Yu J, Wessling-Resnick M. 1998. Influence of copper depletion on iron uptake mediated by SFT, a stimulator of Fe transport. J. Biol. Chem. 273:6909-15
41. 39. Yu J, Yu ZK, Wessling-Resnick M. 1998. Expression of SFT (stimulator of Fe transport) is enhanced by iron chelation in HeLa cells and by hemochromatosis in liver. J. Biol. Chem. 273:34675-78
42. 40. Andrews NC, Fleming MD, Levy JE. 1999. Molecular insights into mechanisms of iron transport. Curr. Opin. Hematol. 6:61-64
43. 41. Gunshin H, Mackenzie B, Berger UV, et al. 1997. Cloning and characterization of a mammalian proton-coupled metal-ion transporter. Nature 388:482-88
44. 42. Canonne-Hergaux F, Gruenheid S, Govoni G, Gros P. 1999. The nramp1 protein and its role in resistance to infection and macrophage function. Proc. Assoc. Am. Physicians 111:283-89.
45. 43. Fleming MD, Andrews NC. 1998. Mammalian iron transport: an unexpected link between metal homeostasis and host defense. J. Lab. Clin. Med. 132:464-68
46. 44. Lee GR, Nacht S, Lukens JN, Cartwright GE. 1968. Iron metabolism in copper-deficient swine. J. Clin. Invest. 47:2058-69
47. 45. Osaki S, Johnson DA. 1969. Mobilization of liver iron by ferroxidase (ceruloplasmin). J. Biol. Chem. 244:5757-58
48. 46. Roeser HP, Lee GR, Nacht S, Cartwright GE. 1970. The role of ceraloplasmin in iron metabolism. J. Clin. Invest. 49: 2408-17
49. 47. Osaki S, Johnson DA, Frieden E. 1971. The mobilization of iron from the perfused mammalian liver by a serum copper enzyme, ferroxidase I. J. Biol. Chem. 246:3018-23
50. 48. de Silva DM, Askwith CC, Eide D, Kaplan J. 1995. The FET3 gene product required for high affinity iron transport in yeast is a cell surface ferroxidase. J. Biol. Chem. 270:1098-101
51. 49. de Silva D, Davis-Kaplan S, Fergestad J, Kaplan J. 1997. Purification and characterization of Fet3 protein, a yeast homologue of ceruloplasmin. J. Biol. Chem. 272:14208-13
52. 50. Askwith C, Kaplan J. 1997. An oxidasepermease-based iron transport system in Schizosaccharomyces pombe and its expression in Saccharomyces cerevisiae. J. Biol. Chem. 272:401-5
53. 51. Askwith CC, Kaplan J. 1998. Site-directed mutagenesis of the yeast multicopper oxidase Fet3p. J. Biol. Chem. 273:22415-19
54. 52. Askwith C, Kaplan J. 1998. Iron and copper transport in yeast and its relevance to human disease. Trends Biochem. Sci. 23:135-38
55. 52a. Campuzano V, Montermini L, Molto MD, et al. 1996. Friedrich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423-27
56. 53. Wong A, Yang J, Cavadini P, et al. 1999. The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis. Hum. Mol. Genet. 8:425-30
57. 54. Knight SA, Kim R, Pain D, Dancis A. 1999. The yeast connection to Friedreich ataxia. Am. J. Hum. Genet. 64:365-71
58. 55. Cogswell ME, McDonnell SM, Khoury MJ, et al. 1998. Iron overload, public health, and genetics: evaluating the evidence for hemochromatosis screening. Ann. Intern. Med. 129:971-79
59. 56. McDonnell SM, Hover A, Gloe D, et al. 1999. Population-based screening for hemochromatosis using phenotypic and DNA testing among employees of health maintenance organizations in Springfield, Missouri. Am. J. Med. 107:30-37
60. 57. Edwards CQ, Griffen LM, Ajioka RS, Kushner JP. 1998. Screening for hemochromatosis: phenotype versus genotype. Semin. Hematol. 35:72-76
61. 58. Niederau C, Stremmel W, Strohmeyer GW. 1994. Clinical spectrum and management of haemochromatosis. Baillieres Clin. Haematol. 7:881-901
62. 59. Adams PC, Deugnier Y, Moirand R, Brissot P. 1997. The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis. Hepatology 25:162-66
63. 60. Crawford DH, Jazwinska EC, Cullen LM, Powell LW. 1998. Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation. Gastroenterology 114:1003-8
64. 61. Barton JC, McDonnell SM, Adams PC, et al. 1998. Management of hemochromatosis. Hemochromatosis Management Working Group. Ann. Intern. Med. 129:932-39
65. 62. Shaheen NJ, Bacon BR, Grimm IS. 1998. Clinical characteristics of hereditary hemochromatosis patients who lack the C282Y mutation. Hepatology 28:526-29
66. 63. Carella M, D'Ambrosio L, Totaro A, et al. 1997. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am. J. Hum. Genet. 60:828-32
67. 64. Chang JG, Liu TC, Lin SF. 1997. Rapid diagnosis of the HLA-H gene Cys 282 Tyr mutation in hemochromatosis by polymerase chain reaction - a very rare mutation in the Chinese population [letter]. Blood 89:3492-93
68. 65. Barton JC, Shih WW, Sawada-Hirai R, et al. 1997. Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis. Blood Cells Mol. Dis. 23: 135-45
69. 66. Adams PC, Chakrabarti S. 1998. Genotypic/phenotypic correlations in genetic hemochromatosis: evolution of diagnostic criteria. Gastroenterology 114:319-23
70. 67. Adams PC. 1999. Population screening for hemochromatosis. Hepatology 29: 1324-27
71. 68. Bacon BR, Olynyk JK, Brunt EM, et al. 1999. HFE genotype in patients with hemochromatosis and other liver diseases. Ann. Intern. Med. 130:953-62
72. 69. Brissot P, Moirand R, Jouanolle AM, et al. 1999. A genotypic study of 217 unrelated probands diagnosed as "genetic hemochromatosis" on "classical" phenotypic criteria. J. Hepatol. 30:588-93
73. 70. Burke W, Thomson E, Khoury MJ, et al. 1998. Hereditary hemochromatosis: gene discovery and its implications for population-based screening. JAMA 280:172-78
74. 71. Camaschella C, Piperno A. 1997. Hereditary hemochromatosis: recent advances in molecular genetics and clinical management. Haematologica 82:77-84
75. 72. Cogswell ME, Burke W, McDonnell SM, Franks AL. 1999. Screening for hemochromatosis. A public health perspective. Am. J. Prev. Med. 16:134-40
76. 73. Cullen LM, Anderson GJ, Ramm GA, et al. 1999. Genetics of hemochromatosis. Annu. Rev. Med. 50:87-98
77. 74. Phatak PD, Sham RL, Raubertas RF, et al. 1998. Prevalence of hereditary hemochromatosis in 16031 primary care patients. Ann. Intern. Med. 129:954-61
78. 74a. Olynyk JK, Cullen DJ, Aquilia S, et al. 1999. A population-based study of the clinical expression of the hemochromatosis gene. N. Engl. J. Med. 341:718-24
79. 75. Parkkila S, Waheed A, Britton RS, et al. 1997. Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract. Proc. Natl. Acad. Sci. USA 94:2534-39
80. 76. Feder JN, Tsuchihashi Z, Irrinki A, et al. 1997. The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. J. Biol. Chem. 272: 14025-28
81. 77. Cazzola M, Cerani P, Rovati A, et al. 1998. Juvenile genetic hemochromatosis is clinically and genetically distinct from the classical HLA-related disorder [letter]. Blood 92:2979-81
82. 78. Kelly AL, Rhodes DA, Roland JM, et al. 1998. Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage disease. Q.J. Med. 91:607-18
83. 79. Cazzola M, Ascari E, Barosi G, et al. 1983. Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism. Hum. Genet. 65:149-54
84. 80. Camaschella C, Roetto A, Cicilano M, et al. 1997. Juvenile and adult hemochromatosis are distinct genetic disorders. Eur. J. Hum. Genet. 5:371-75
85. 81. Camaschella C, Fargion S, Sampietro M, et al. 1999. Inherited HFE-unrelated hemochromatosis in Italian families. Hepatology 29:1563-64
86. 82. Roetto A, Totaro A, Cazzola M, et al. 1999. Juvenile hemochromatosis locus maps to chromosome 1q. Am. J. Hum. Genet. 64:1388-93
87. 83. Gordeuk V, Mukiibi J, Hasstedt SJ, et al. 1992. Iron overload in Africa. Interaction between a gene and dietary iron content. N. Engl. J. Med. 326:95-100
88. 84. Moyo VM, Gangaidzo IT, Gomo ZA, et al. 1997. Traditional beer consumption and the iron status of spouse pairs from a rural community in Zimbabwe. Blood 89:2159-66
89. 85. Moyo VM, Mandishona E, Hasstedt SJ, et al. 1998. Evidence of genetic transmission in African iron overload. Blood 91:1076-82
90. 86. Barton JC, Edwards CQ, Bertoli LF, et al. 1995. Iron overload in African Americans. Am. J. Med. 99:616-23
91. 87. Wurapa RK, Gordeuk VR, Brittenham GM, et al. 1996. Primary iron overload in African Americans. Am. J. Med. 101:9-18
92. 88. McNamara L, MacPhail AP, Gordeuk VR, et al. 1998. Is there a link between African iron overload and the described mutations of the hereditary haemochromatosis gene? Br. J. Haematol. 102: 1176-78
93. 89. Monaghan KG, Rybicki BA, Shurafa M, Feldman GL. 1998. Mutation analysis of the HFE gene associated with hereditary hemochromatosis in African Americans. Am. J. Hematol. 58:213-17
94. 89a. Gangaidzo IT, Moyo VM, Saungweme T, et al. 1999. Iron overload in urban Africans in the 1990s. Gut 45:278-83
95. 90. Hayashi A, Wada Y, Suzuki T, Shimizu A. 1993. Studies on familial hypotransferrinemia: unique clinical course and molecular pathology. Am. J. Hum. Genet. 53:201-13
96. 91. Hamill RL, Woods JC, Cook BA. 1991. Congenital atransferrinemia. A case report and review of the literature. Am. J. Clin. Pathol. 96:215-18
97. 92. Bottomley SS. 1998. Secondary iron overload disorders. Semin. Hematol. 35: 77-86
98. 93. Bernstein SE. 1987. Hereditary hypotransferrinemia with hemosiderosis, a murine disorder resembling human atransferrinemia. J. Lab. Clin. Med. 110: 690-705
99. 94. Levy JE, Jin O, Fujiwara Y, et al. 1999. Transferrin receptor is necessary for development of erythrocytes and the nervous system. Nat. Genet. 21:396-99
100. 95. Miyajima H, Takahashi Y, Shimizu H, et al. 1996. Late onset diabetes mellitus in patients with hereditary aceruloplasminemia. Intern. Med. 35:641-45
101. 96. Takahashi Y, Miyajima H, Shirabe S, et al. 1996. Characterization of a nonsense mutation in the ceruloplasmin gene resulting in diabetes and neurodegenerative disease. Hum. Mol. Genet. 5:81-84
102. 97. Harris ZL, Takahashi Y, Miyajima H, et al. 1995. Aceruloplasminemia: molecular characterization of this disorder of iron metabolism. Proc. Natl. Acad. Sci. USA 92:2539-43
103. 98. Logan JI, Harveyson KB, Wisdom GB, et al. 1994. Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus. Q.J. Med. 87:663-70
104. 99. Morita H, Ikeda S, Yamamoto K, et al. 1995. Hereditary ceruloplasmin deficiency with hemosiderosis: a clinicopathological study of a Japanese family. Ann. Neurol. 37:646-56
105. 100. Yoshida K, Furihata K, Takeda S, et al. 1995. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. Nat. Genet. 9:267-72
106. 101. Yazaki M, Yoshida K, Nakamura A, et al. 1998. A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosis. J. Neurol. Sci. 156:30-34
107. 102. Petrukhin K, Fischer SG, Pirastu M, et al. 1993. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nat. Genet. 5:338-43
108. 103. Linder MC, Hazegh-Azam M. 1996. Copper biochemistry and molecular biology. Am. J. Clin. Nutr. 63:797S-811S
109. 104. Klomp LW, Gitlin JD. 1996. Expression of the ceruloplasmin gene in the human retina and brain: implications for a pathogenic model in aceruloplasminemia. Hum. Mol. Genet. 5:1989-96
110. 105. Miyajima H, Takahashi Y, Kamata T, et al. 1997. Use of desferrioxamine in the treatment of aceruloplasminemia. Ann. Neurol. 41:404-7
111. 106. Girelli D, Corrocher R, Bisceglia L, et al. 1995. Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation"). Blood 86:4050-53
112. 107. Bonneau D, Winter-Fuseau I, Loiseau MN, et al. 1995. Bilateral cataract and high serum ferritin: a new dominant genetic disorder? J. Med. Genet. 32:778-79
113. 108. Beaumont C, Leneuve P, Devaux I, et al. 1995. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. Nat. Genet. 11:444-46
114. 109. Cazzola M, Bergamaschi G, Tonon L, et al. 1997. Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA. Blood 90:814-21
115. 110. Girelli D, Corrocher R, Bisceglia L, et al. 1995. Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation"). Blood 86:4050-53
116. 111. Aguilar-Martinez P, Biron C, Masmejean C, et al. 1996. A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome [letter]. Blood 88:1895
117. 112. Girelli D, Corrocher R, Bisceglia L, et al. 1997. Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene. Blood 90:2084-88
118. 113. Sanchez-Casis G, Cote M, Barbeau A. 1976. Pathology of the heart in Friedreich's ataxia: review of the literature and report of one case. Can. J. Neurol. Sci. 3:349-54
119. 114. Lamarche JB, Cote M, Lemieux B. 1980. The cardiomyopathy of Friedreich's ataxia: morphological observations in 3 cases. Can. J. Neurol. Sci. 7:389-96
120. 115. Pagon RA, Bird TD, Detter JC, Pierce I. 1985. Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder. J. Med. Genet. 22:267-73
121. 116. Raskind WH, Wijsman E, Pagon RA, et al. 1991. X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13. Am. J. Hum. Genet. 48:335-41