Congenital dyserythropoietic anemias

American Journal of Hematology

Volumn 51, Issue 1, 1996, Pages 55-63

  Marks, Peter W ^a   Mitus, A Jacqueline ^a  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

Anemia; Dyserythropoiesis; HEMPAS; Review

Indexed keywords

DEFEROXAMINE;

ANEMIA; DYSERYTHROPOIESIS; HEMOCHROMATOSIS; HUMAN; MORPHOLOGY; PRIORITY JOURNAL; REVIEW; SPLENECTOMY;

ALPHA-MANNOSIDASE; ANEMIA, DYSERYTHROPOIETIC, CONGENITAL; BLOOD PROTEINS; CARBOHYDRATE SEQUENCE; DIAGNOSIS, DIFFERENTIAL; ERYTHROCYTES, ABNORMAL; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; GLYCOPROTEINS; GLYCOSYLATION; HUMANS; INFANT, NEWBORN; MALE; MANNOSIDASES; MOLECULAR SEQUENCE DATA; N-ACETYLGLUCOSAMINYLTRANSFERASES; PROTEIN PROCESSING, POST-TRANSLATIONAL;

EID: 0030053449     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8652(199601)51:1<55::AID-AJH9>3.0.CO;2-6     Document Type: Review

References (91)

1. Ciba Foundation Simposium 37: Congenital Disorders of Erythropoiesis. New York: Elsevier, 1976.
2. Lewis SM, Verwilghen RL (eds): "Dyserythropoiesis." New York: Academic Press, 1977.
3. Wolff JA, von Hofe FH: Familial erythroid multinuclearity. Blood 6-1274, 1951.
4. Crookston JH, Godwin TF, Wightman KJR, Dacie JV, Lewis SM, Patterson M: Congenital dyserythropoietic anemia. XI Congress of the International Society of Hematology. Sydney, Australia, 1966, AB8 (abstr).
5. Wendt F, Heimpel H: Kongenitale dyerythropoietische Anämie bei einem zweieiigen Zwillingspaar. Med Klin 62:172, 1967.
6. De Lozzio CB, Vanlencia JI, Acame EA: Chromosomal study in erythroblastic endopolyploidy. Lancet 1:1004, 1962.
7. Roberts PD, Wallis PG, Jackson ADM: Haemolytic anaemia with multinucleated normoblasis in the marrow. Lancet 1:1186, 1962 (letter).
8. Heimpel H, Wendt F: Congenital dyserythropoietic anemia with karyorrhexis and multinuclearity of crythroblasts. Helv Med Acta 34:103, 1968.
9. Crookston JH, Crookston MC, Burnie KL, Francombe WH, Dacie JV, Davis JA, Lewis SM: Hereditary erythroblastic multinuclearity associated with a positive acidified-serum test: A type of congenital dyserythropoietic anaemia. Br J Haematol 17:11, 1969.
10. Verwilghen RL: Congenital dyserythropoietic anaemia type II (HEMPAS). In "Ciba Foundation Symposium 37: Congenital Disorders of Erythropoiesis." New York: Elsevier, 1976, p 151.
11. Dewar CL, Lowenthal RM: Ultrastructure studies of an unusual variant of congenital dyserythropoietic anaemia type II. Acta Haematol 64:53, 1980.
12. Weiss S, Gafter U, van der Lyn E, Djaldetti M: Congenital dyserythropoietic anemia with peculiar nuclear abnormality. Scand J Haematol 15:261, 1975.
13. Vermylen C, Scheiff JM, Rodhain J, Ninane J, Cornu G: A variant of the congenital dyserythropoietic anaemia type II with structural abnormalities in the granulocytic series. Eur J Pediatr 145:232, 1986.
14. Queisser W, Spiertz E, Jost E, Heimpel H: Proliferation disturbances of erythroblasts in congenital dyserythropoietic type I and II. Acta Haematol 45:65, 1971.
15. Heimpel H: Congenital dyserythropoietic anaemia type I. In Lewis SM, Verwilghen RL (eds): "Dyserythropoiesis." New York: Academic Press, 1977, p 55.
16. Hewitt PE, Win AA, Davies SC: CDA type I with persistent hemosiderinuria: Absence of iron loading. Br J Haematol 56:682, 1984 (letter).
17. Choudhury VR Saraya AK, Kasturi J, Rath PK: Congenital dyserythropoietic anaemias: Splenectomy as a mode of therapy. Acta Haematol 66:195, 1981.
18. Samson D, Halliday D, Chanarin I: Congenital dyserythropoietic anaemia: Response to splenectomy and quantitation of ineffective erythropoiesis. J Clin Pathol 30:184, 1977.
19. Barosi G, Cazzola M, Stefanelli M, Ascari E: Studies of ineffective erythropoiesis and peripheral haemolysis in congenital dyserythropoietic anaemia type II. Br J Haematol 43:243, 1979.
20. Wickramasinghe SN, Pippard MJ: Studies of erythroblast function in congenital dyserythropoietic anaemia, type I: Evidence of impaired DNA, RNA, and protein synthesis and unbalanced globin chain synthesis in ultrastructurally abnormal cells. J Clin Pathol 39:881, 1986.
21. Hruby MA, Mason RG, Honig GR: Unbalanced globin chain synthesis in congenital dyserythropoietic anaemia. Blood 42:843, 1973.
22. Heimpel H: Congenital dyserythropoietic anaemia type I: Clinical and experimental aspects. In "Ciba Foundation Symposium 37. Congenital Disorders of Erythropoiesis." New York: Elsevier, 1976, p 135.
23. Clauvel JP, Cosson A, Breton-Gorius J, Flandrin G, Faille A, Bonnet-Gajdos M, Turpin F, Bernard J: Dysérythropoièse congénitale (étude de 6 observations). Nouv Rev Fr Hématol 12:653, 1972.
24. Brichard B, Vermylen C, Scheiff JM, Michaux JL, Ninane J, Cornu G: Two cases of congenital dyserythropoietic anemia type I associated with unusual skeletal abnormalities of the limbs. Br J Haematol 86:201, 1994.
25. Heimpel H, Forteza-Vila J, Queisser W, Spiertz E: Electron and light microscopic study of the erythroblasts of patients with congenital dyserythropoietic anemia. Blood 37:299, 1971.
26. Hiraoka A, Kanayama Y, Yonezawa T, Kitani T, Tarui S, Hashimoto PH: Congenital dyserythropoietic anemia type I: A freeze-fracture and thin section electron microscopic study. Blut 46:329, 1983.
27. Conde E, Mazo E, Baro J, Lafarga M, Cuardrado MA, Recio M, Zubizarreta A: Transmission and scanning electron microscopy study on congenital dyserythropoietic anemia type I. Acta Haematol 70:243, 1983.
28. Verwilghen RL, Lewis SM, Dacie JV, Crookston JH, Crookston MC: HEMPAS: Congenital dyserythropoietic anaemia (type II). Q J Med 42:257, 1973.
29. Clauvel JP, Erlinger S: Congenital dyserythropoietic anemia and the Dubin-Johnson syndrome A case report Gastroenterology 67:686, 1974.
30. Hernandez P, Almagro D, Corral JF, Opolski A, Sanchez JA, Rodriguez N: Association of type II congenital dyserythropoietic anaemia and von Willebrand's disease. Br J Haematol 27:453, 1974
31. Majeed HA, Kalaawi M, Mohanty D, Teebi AS, Al-Gazzar AH: Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis m three related children and the association with Sweet syndrome in two siblings J Pediatr 115:730, 1989
32. Murphy S, Oski F: Congenital dyseryrhropoietic anemia, type II: report of two cases and a review of the literature. Pediatrics 50:858, 1972.
33. Van Dorpe A, Broeckaert-Van Orshoven A, Desmet V, Verwilghen RL: Gaucher-like cells and congenital dyserythropoietic anemia, type II (HEMPAS). Br J Haematol 25-165, 1973.
34. Hug G, Wong KY, Lampkin BC: Congenital dyserythropoietic anemia type II. Ultrastructure of erythroid cells and hepatocytes. Lab Invest 26:11, 1972.
35. Wickramasinghe SN, Parry TE, Hughes M: Electron microscope autoradiographic studies of the erythroblastst of a case of congenital dyserythropoietic anaemia, type II. Scand J Haematol 20:429, 1978.
36. Punt K, Borst-Eilers, Nijessen JG: Congenital dyserythropoietic anaemia, type II (HEMPAS). In Lewis SM, Verwilghen RL (eds): "Dyserythropoiesis." New York: Academic Press, 1977, p 71.
37. Spitalnik SL, Silberstein LE: The I system. In Hoffman R, Benz EJ Jr, Shattil SJ, Furie B, Cohen HJ (eds). "Hematology: Basic Principles and Practice." New York: Churchill Livingstone, 1991, p 1550.
38. Enquist RW, Gockerman JP, Jenis EH, Warkel RL, Dillon DE: Type II congenital dyserythropoietic anemia. Ann Intern Med 77:371, 1972.
39. Bergström I, Jacobsson L: Hereditary benign erythroreticulosis. Blood, 19:296, 1962.
40. Goudsmit R, Beckers D, DeBruijne JI, Engelfriet CP, James J, Morselt AF, Reynierse E: Congenital dyserythropoietic anemia, type III. Br J Haematol 23:97, 1972.
41. Wickramasinghe SN, Parry TE, Williams C, Bond AN, Hughes M, Crook S: A new case of congenital dyserythropoietic anaemia, type III: Studies of the cell cycle distribution and ultrastructure of erythroblasts and of nucleic acid synthesis in marrow cells. J Clin Pathol 35:1103, 1982.
42. Wickramasinghe SN, Wahlin A, Anstee D, Parsons SF, Stopps G, Bergstrom I, Eriksson M, Sandstrom H, Shiels S: Observations on two members of the Swedish family with congenital dyserythropoietic anaemia, type III. Eur J Haematol 50:213, 1993
43. Lind L, Sanstrom H, Wahlin A, Eriksson M, Nilsson-Sojka B, Sikstrom C, Holmgren G: Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25. Hum Mol Genet 4:109, 1995.
44. Sandström H, Wahlin A, Eriksson M, Bergström I, Wickramasinghe SN: Intravascular haemolysis and increased prevalence of myeloma and monoclonal gammopathy in congenital dyserythropoietic anaemia, type III. Eur J Haematol 52:42, 1994.
45. Goudsmit R: Congenital dyserythropoietic anemia type III. In Lewis SM, Verwilghen RL (eds): "Dyserythropoiesis." New York: Academic Press, 1977, p 83.
46. Björkstén B, Holmgren G, Roos G, Stenling R: Congenital dyserythropoietic anaemia type III: An electron microscopic study. Br J Haematol 38:37, 1978.
47. McBride JA, Wilson WEC, Baille N: Congenital dyserythropoietic anemia - type IV. Blood 38 837, 1972 (abstr).
48. Benjamin JT, Rosse WF, Dallidorf FG, McMillan CW: Congenital dyserythropoietic anemia - type IV. J Pediatr 87:210, 1975.
49. David G, van Dorpe A: Aberrant congenital dyserythropoietic anemias. In Lewis SM, Verwilghen RL (eds) "Dyserythropoiesis." New York: Academic Press, 1977, p 93.
50. Dvilansky A, Sukenik S, Stern J, Djaldetti M: Congenital dyserythropoietic anemia with ultrastructural findings compatible with both types I and II. Acta Haematol 52:161, 1974.
51. Ohisalo JJ, Viitala J, Lintula R, Ruutu T: A new congenital dyserythropoietic anaemia Br J Haematol 68:111, 1988.
52. Weatherall DJ, Clegg JB, Knox-Macaulay HH, Bunch C, Hopkins CR, Temperley IJ: A genetic anaemia with features of both thalassemia and congenital dyserythropoietic anaemia. Br J Haematol 25:286, 1973.
53. Seip M, Skrede S, Bjerve KS, Hovig T, Gaarder PI: Congenital dyserythropoietic anaemia with features of both type I and type II. Scand J Haematol 15:272, 1975.
54. Seip M, Skrede S, Bjerve KS, Hovig T, Gaarder PI, Stavem P: A case of variant congenital dyserythropoietic anemia revisited. Scand J Haematol 28:278, 1982.
55. Carter C, Darbyshire PJ, Wickramasinge SN: A congenital dyserythropoietic anaemia variant presenting as hydrops fetalis. Br J Haematol 72:289, 1989.
56. Roberts DJ, Nadel A, Lage J, Rutherford CJ: An unusual variant of congenital dyserythropoietic anaemia with mild maternal and lethal fetal disease. Br J Haematol 84:549, 1993.
57. Sansone G: A new type of congenital dyserythropoietic anaemia. Br J Haematol 39:537, 1978.
58. Vainchencker W, Guichard J, Bouguet J, Breton-Gorius J: Congenital dyserythropoietic anaemia type I: Absence of clonal expression in the nuclear abnormalities of cultured erythroblasts. Br J Haematol 46:33, 1980.
59. Roodman GD, Clare CN, Mills G: Congenital dyserythropoietic anaemia type II (CDA-II): Chromosomal banding studies and adherent cell defects on erythroid colony (CFU-E) and burst (BFU-E) formation. Br J Haematol 50:499, 1982.
60. Florensa L, Woessner S, Besses C, Sole F, Sans-Sabrafen J: Congenital dyserythropoietic anemia type II: Morphological characterization of the erythroid colonies (BFU-E) from the bone marrow and peripheral blood of two patients. Ann Hematol 69:57, 1994
61. Wickramasinghe SN, Goudsmit R: Some aspects of the biology of multinucleate and giant mononucleate erythroblasts in a patient with CDA type in. Br J Haematol 41:485, 1979.
62. Meuret G, Tschan P, Schlüter G, Graf Keyserlingk D, Boll I: DNA-, histone-, RNA-, hemoglobin-content and DNA-synthesis in erythroblasts in a case of congenital dyserythropoietic anemia type I. Blut 24:32, 1972.
63. Wickramasinghe SN, Pippard MJ: Studies of erythroblast function in congenital dyserythropoietic anaemia, type I: Evidence of impaired DNA, RNA, and protein synthesis and unbalanced globin chain synthesis in ultrastructurally abnormal cells. J Clin Pathol 39:881, 1986.
64. Alloisio N, Jaccoud P, Dorleac E, Morle L, Philippe N, Margueritte G, Byron PA, Delaunay J: Alterations in globin chain synthesis and of red blood cell membrane proteins in congenital dyserythropoietic anemia I and II. Pediatr Res 16:1016, 1982.
65. Harkness DR, Villa L, Berman I, Wilson JB, Huisman THJ: Biosynthetic and structural studies of hemoglobin in a patient with congenital dyserythropoietic anemia type I. Hemoglobin 1:663, 1977.
66. Anselstetter V, Horstmann HJ, Heimpel H: Congenital dyserythropoietic anemia, types I and II: Aberrant pattern of erythrocyte membrane proteins in CDA II, as revealed by two-dimensional polyacrylamide gel electrophorcsis. Br J Haematol 35:209, 1977.
67. Fukuda MN, Papayannopoulou T, Gordon-Smith EC, Rochant H, Testa U: Defect in glycosylation of erythrocyte membrane proteins in congenital dyserythropoietic anaemia type II (HEMPAS). Br J Haematol 56:55, 1984.
68. Gockerman JP, Durocher JR, Conrad ME: The abnormal surface characteristics of the red blood cell membrane in congenital dyserythropoietic anaemia type II (HEMPAS). Br J Haematol 30:383, 1975.
69. Joseph KC, Gockerman JP: Accumulation of glycolipids containing N-acetylglucosamine in erythrocyte stroma of patients with congenital dyserythropoietic anemia type II (HEMPAS). Biochem Biophys Res Commun 65:146, 1975.
70. Jacob HS: Erythroid cell membrane abnormalities in HEMPAS. In Lewis SM, Verwilghen RL (eds): "Dyserythropoiesis." New York: Academic Press, 1977, p 209.
71. Fukada MN, Masri KA, Dell A, Luzzatto L, Moremen KW: Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-manosidase II. Proc Natl Acad Sci USA 87:7443, 1990.
72. Fukuda MN, Dell A, Scartezzini P: Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyl-transferase II. J Biol Chem 262:7195, 1987.
73. Fukuda MN, Masri KA, Dell A, Thonar EJ, Klier G, Lowenthal RM: Defective glycosylation of erythrocyte membrane glycoconjugates in a variant of congenital dyserythropoietic anemia type II: Association of low level of membrane bound form of galactosyltransferase. Blood 73:1331, 1989.
74. Sansone G, Scartezzini P, Baldi M, Forni GL, Veneziano G: Proteolytic dissection of band 3 from human erythrocytes in congenital dyserythropoietic anemia type II. Pathologica 73:623, 1981.
75. Scartezzini P, Forni GL, Baldi M, Izzi C, Sansone G: Decreased glycosylation of band 3 and band 4.5 of erythrocyte membrane in congenital dyserythropoietic anaemia type II. Br J Haematol 51:569, 1982.
76. Fukuda MN, Klier G, Scartezzini P: Congenital dyserythropoietic anaemia type II (HEMPAS): Characterization of aberrant intracellular organelles by immunogold electron microscopy. Br J Haematol 67:95, 1987.
77. Tomita A, Parker AJ: Aberrant regulation of complement by the erythrocytes of hereditary erythroblastic multinuclearity with a positive acidified serum lysis test (HEMPAS). Blood 83:250, 1994.
78. Fukuda MN: HEMPAS disease: Genetic defect of glycosylatioon. Glycobiology 1:9, 1990.
79. Fukuda MN, Gaetani GF, Izzo P, Scartezzini P, Dell A: Incompletely processed N-glycans of serum glycoproteins in congenital dyserythropoietic anaemia type II (HEMPAS). Br J Haematol 82:745, 1992.
80. Lay HN, Pemberton PJ, Hilton HB: Congenital dyserythropoietic anaemia type I in two brothers presenting with neonatal jaundice. Arch Dis Child 53:753, 1978.
81. Maldonado JE, Taswell HF: Type I dyserythropoietic anemia in an elderly patient. Blood 44:495, 1974.
82. Lewis SM, Frisch B: Congenital dyserythropoietic anemias: electron microscopy. In "Ciba Foundation Symposium 37: Congenital Disorders of Erythropoiesis." New York: Elsevier, 1976, p 171.
83. Fairbanks G, Steck TL, Wallach DFH: Electrophoretic analysis of the major polypeptides of the erythrocyte membrane. Biochemistry 10:2606, 1971.
84. West NC, Meigh RE, Mackie M, Anderson MJ: Parvovirus infection associated with aplastic crisis in a patient with HEMPAS. J Clin Pathol 39:1019, 1986.
85. Hines GL: Paravertebral extramedullary hematopoiesis (as a posterior mediastinal tumor) associated with congenital dyserythropoietic anemia. J Thorac Cardiovasc Surg 106:760, 1993 (letter).
86. Parker LA, Vincent LM, Mauro MA, Perry JR: Extramedullary hematopoiesis. Demonstration by transmission and electron computed tomography. Clin Nucl Med 11:1, 1986.
87. Lugassy G, Michaeli J, Harats N, Libson E, Rachmilewitz EA: Paravertebral extramedullary hematopoiesis associated with improvement of anemia in congenital dyserythropoietic anemia type II. Am J Hematol 22:295, 1986.
88. Cazzola M, Barosi G, Bergamaschi G, Dezza L, Palestra P, Polino G, Ramella S, Spriano P, Ascari E: Iron loading in congenital dyserythropoietic anaemias and congenital sideroblastic anaemias. Br J Haematol 54:649, 1983.
89. Halpern Z, Rahmani R, Levo Y: Severe hemochromatosis: The predominant clinical manifestation of congenital dyserythropoietic anemia type 2. Acta Haematol 74:178, 1985.
90. Schuppler J, Cornu P, Krey G, Gudat F, Speck B: Congenital dyserythropoietic anemia with ultrastructural features of type I and II. Blut 31: 271, 1975.
91. Smithson WA, Perrault J: Use of subcutaneous deferoxamine in a child with hemochromatosis associated with congenital dyserythropoietic anemia, type I. Mayo Clin Proc 57:322, 1982.