메뉴 건너뛰기




Volumn 147, Issue 11, 1999, Pages 992-999

Congenital dyserythropoietic anemias: Clinical manifestations and new observations on epidemiology, pathogenesis and therapy;Kongenitale dyserythropoetische anamien. Klinisches bild und neue erkenntnisse zur epidemiologie, pathogenese und behandlung

(3)  Heimpel, H a   Maier, K a   Kohne, E a  

a NONE

Author keywords

Congenital dyserythropoietic anemia; Ineffective erythropoiesis; Iron overload; Red cell membrane

Indexed keywords

ALPHA INTERFERON;

EID: 0032734671     PISSN: 00269298     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001120050529     Document Type: Review
Times cited : (5)

References (64)
  • 2
    • 0017336450 scopus 로고
    • Congenital dyserythropoietic anaemia, types I and II: Aberrant pattern of erythrocyte membrane proteins in CDA II, as revealed by two-dimensional polyacrylamide gel electrophoresis
    • Anselstetter V, Horstmann K, Heimpel H (1977) Congenital dyserythropoietic anaemia, types I and II: Aberrant pattern of erythrocyte membrane proteins in CDA II, as revealed by two-dimensional polyacrylamide gel electrophoresis. Br J Haematol 35:209-215
    • (1977) Br J Haematol , vol.35 , pp. 209-215
    • Anselstetter, V.1    Horstmann, K.2    Heimpel, H.3
  • 4
    • 0018663467 scopus 로고
    • Studies of ineffective erythropoiesis and peripheral haemolysis in congenital dyserythropoietic anaemia type II
    • Barosi G, Cazzola M, Stefannelli M, Ascari E, Stefanelli M (1979) Studies of ineffective erythropoiesis and peripheral haemolysis in congenital dyserythropoietic anaemia type II. Br J Haematol 43:243-250
    • (1979) Br J Haematol , vol.43 , pp. 243-250
    • Barosi, G.1    Cazzola, M.2    Stefannelli, M.3    Ascari, E.4    Stefanelli, M.5
  • 6
    • 0000738334 scopus 로고
    • Hereditary benign erythroreticulosis
    • Bergström I, Jacobsson L (1962) Hereditary benign erythroreticulosis. Blood 19:296-303
    • (1962) Blood , vol.19 , pp. 296-303
    • Bergström, I.1    Jacobsson, L.2
  • 7
    • 0021827777 scopus 로고
    • Unclassified type of congenital dyserythropoietic anemia (CDA) with prominent peripheral erythroblastosis
    • Bethlenfalvay NC, Hadnagy GS, Heimpel H (1985) Unclassified type of congenital dyserythropoietic anemia (CDA) with prominent peripheral erythroblastosis. Br J Haematol 60:541-550
    • (1985) Br J Haematol , vol.60 , pp. 541-550
    • Bethlenfalvay, N.C.1    Hadnagy, G.S.2    Heimpel, H.3
  • 8
    • 0022652490 scopus 로고
    • Nuclear bridging of erythroblasts in acquired dyserythropoesis: An early and transient preleukemic marker
    • Bethlenfalvay NC, Phaure TAJ, Phlyliky RL, Bowman RP (1986) Nuclear bridging of erythroblasts in acquired dyserythropoesis: an early and transient preleukemic marker. Am J Hematol 21:315-322
    • (1986) Am J Hematol , vol.21 , pp. 315-322
    • Bethlenfalvay, N.C.1    Phaure, T.A.J.2    Phlyliky, R.L.3    Bowman, R.P.4
  • 9
    • 0022079241 scopus 로고
    • Type IV congenital dyserythropoietic anemia with unusual response to splenectomy
    • Bird AR, Karabus CD, Hartley PS (1985) Type IV congenital dyserythropoietic anemia with unusual response to splenectomy. Am J Pediatr Hematol Oncol 7:196-199
    • (1985) Am J Pediatr Hematol Oncol , vol.7 , pp. 196-199
    • Bird, A.R.1    Karabus, C.D.2    Hartley, P.S.3
  • 10
    • 0020407280 scopus 로고
    • Variants of congenital dyserythropoietic anaemia:An update
    • Boogaerts MA, Verwilghen RL (1982) Variants of congenital dyserythropoietic anaemia:an update. Haematologia (Budap) 15:211-219
    • (1982) Haematologia (Budap) , vol.15 , pp. 211-219
    • Boogaerts, M.A.1    Verwilghen, R.L.2
  • 11
    • 0015538559 scopus 로고
    • Anomalies ultrastructurales des érythroblastes et des érythrocytes dans six cas de dysérythropoièse congénitale
    • Breton-Gorius J, Daniel M, Clauvel JP, Dreyfus B (1973) Anomalies ultrastructurales des érythroblastes et des érythrocytes dans six cas de dysérythropoièse congénitale. Nouv Rev Fr Hematol 13:23-50
    • (1973) Nouv Rev Fr Hematol , vol.13 , pp. 23-50
    • Breton-Gorius, J.1    Daniel, M.2    Clauvel, J.P.3    Dreyfus, B.4
  • 12
    • 0028236547 scopus 로고
    • Two cases of congenital dyserythropoietic anaemia type I associated with unusual skeletal abnormalities of the limbs
    • Brichard B, Vermylen C, Scheiff JM, Michaux JL, Ninane J, Cornu G (1994) Two cases of congenital dyserythropoietic anaemia type I associated with unusual skeletal abnormalities of the limbs. Br J Haematol 86:201-202
    • (1994) Br J Haematol , vol.86 , pp. 201-202
    • Brichard, B.1    Vermylen, C.2    Scheiff, J.M.3    Michaux, J.L.4    Ninane, J.5    Cornu, G.6
  • 19
    • 9044236417 scopus 로고
    • Aberrant congenital dyserythropoietic anemias
    • Lewis SM, Verwilghen RL (eds) Academic Press, New York London
    • David G, Van Dorpe A (1977) Aberrant congenital dyserythropoietic anemias. In: Lewis SM, Verwilghen RL (eds) Dyserythropoiesis. Academic Press, New York London pp 92-102
    • (1977) Dyserythropoiesis , pp. 92-102
    • David, G.1    Van Dorpe, A.2
  • 20
    • 0026501208 scopus 로고
    • Ultrastructural findings of congenital dyserythropoietic sickle cell beta thal-associated anemia
    • Dell'Orbo C, Marchi A, Quacci D (1992) Ultrastructural findings of congenital dyserythropoietic sickle cell beta thal-associated anemia. Histol Histopathol 7:7-10
    • (1992) Histol Histopathol , vol.7 , pp. 7-10
    • Dell'orbo, C.1    Marchi, A.2    Quacci, D.3
  • 21
    • 0014788744 scopus 로고
    • Positiver säureserumtest und erhöhte agglutinabilität durch anti-i bei patienten mit kongenitaler dyserythropoietischer anämie
    • Erdmann H, Heimpel H, Buchta H (1970) Positiver Säureserumtest und erhöhte Agglutinabilität durch Anti-i bei Patienten mit kongenitaler dyserythropoietischer Anämie. Klin Wochenschr 48:569-570
    • (1970) Klin Wochenschr , vol.48 , pp. 569-570
    • Erdmann, H.1    Heimpel, H.2    Buchta, H.3
  • 22
    • 0015388830 scopus 로고
    • Cinétique de l'érythropoièse dans 14 cas "d'érythropoièse inefficace" avec anomalies morphologiques des érythroblastes et polynucléarité
    • Faille A, Najean Y, Dresch C (1972) Cinétique de l'érythropoièse dans 14 cas "d'érythropoièse inefficace" avec anomalies morphologiques des érythroblastes et polynucléarité. Nouv Rev Fr Hematol 12:631-652
    • (1972) Nouv Rev Fr Hematol , vol.12 , pp. 631-652
    • Faille, A.1    Najean, Y.2    Dresch, C.3
  • 23
    • 0027283744 scopus 로고
    • Congenital dyserythropoietic anaemia type II (HEMPAS) and its molecular basis
    • Fukuda MN (1993) Congenital dyserythropoietic anaemia type II (HEMPAS) and its molecular basis. Baillieres Clin Haematol 6:493-511
    • (1993) Baillieres Clin Haematol , vol.6 , pp. 493-511
    • Fukuda, M.N.1
  • 24
    • 0028560319 scopus 로고
    • Clinical manifestations and therapy of transfusional haemosiderosis
    • Gabutti V, Borgna-Pigatti C (1994) Clinical manifestations and therapy of transfusional haemosiderosis. Baillieres Clin Haematol 7:919-940
    • (1994) Baillieres Clin Haematol , vol.7 , pp. 919-940
    • Gabutti, V.1    Borgna-Pigatti, C.2
  • 27
    • 0344175823 scopus 로고
    • Congenital-dyserythropoietic-malformation syndrome
    • Athens
    • Gasser C (1981) Congenital-dyserythropoietic-malformation syndrome (abstract). 6th Meeting of the ISH, Athens
    • (1981) 6th Meeting of the ISH
    • Gasser, C.1
  • 28
    • 0016709382 scopus 로고
    • Dyserythropoiese and dyserythropoietische anämien
    • Heimpel H (1975) Dyserythropoiese and dyserythropoietische Anämien. Schweiz Med Wochenschr 105:1562-1568
    • (1975) Schweiz Med Wochenschr , vol.105 , pp. 1562-1568
    • Heimpel, H.1
  • 29
    • 84961362457 scopus 로고
    • Congenital dyserythropoietic anemia type I: Clinical and experimental aspects
    • Porter R, Fitzsimons DW (eds) Congenital disorders of erythropoiesis. new series. Elsevier, Amsterdam New York
    • Heimpel H (1976) Congenital dyserythropoietic anemia type I: Clinical and experimental aspects. In: Porter R, Fitzsimons DW (eds) Congenital disorders of erythropoiesis. Ciba Foundation Symposium 37 (new series). Elsevier, Amsterdam New York, pp 135-149
    • (1976) Ciba Foundation Symposium , vol.37 , pp. 135-149
    • Heimpel, H.1
  • 30
    • 0345469694 scopus 로고
    • Congenitale dyserythropoietic anaemia, type I
    • Lewis SM, Verwilghen RL (eds) Academic Press, New York London
    • Heimpel H (1977) Congenitale dyserythropoietic anaemia, type I. In: Lewis SM, Verwilghen RL (eds) Dyserythropoiesis. Academic Press, New York London, pp 55-70
    • (1977) Dyserythropoiesis , pp. 55-70
    • Heimpel, H.1
  • 31
    • 0014264724 scopus 로고
    • Congenital dyserythropoietic anemia with karyorrhexis and multinuclearity of erythroblasts
    • Heimpel H, Wendt F (1968) Congenital dyserythropoietic anemia with karyorrhexis and multinuclearity of erythroblasts. Helv Med Acta 34:103-115
    • (1968) Helv Med Acta , vol.34 , pp. 103-115
    • Heimpel, H.1    Wendt, F.2
  • 33
    • 0015027830 scopus 로고
    • Electron and light microscopic study of the erythropoiesis of patients with congenital dyserythropoietic anemia
    • Heimpel H, Forteza-Vila J, Queisser W, Spiertz E (1971) Electron and light microscopic study of the erythropoiesis of patients with congenital dyserythropoietic anemia. Blood 37:299-310
    • (1971) Blood , vol.37 , pp. 299-310
    • Heimpel, H.1    Forteza-Vila, J.2    Queisser, W.3    Spiertz, E.4
  • 34
    • 0021215339 scopus 로고
    • CDA type I with persistent haemosiderinuria: Absence of iron loading
    • Hewitt PE, Win AA, Davies SC (1984) CDA type I with persistent haemosiderinuria: absence of iron loading. Br J Haematol 56:682-684
    • (1984) Br J Haematol , vol.56 , pp. 682-684
    • Hewitt, P.E.1    Win, A.A.2    Davies, S.C.3
  • 35
    • 0030971486 scopus 로고    scopus 로고
    • Successful treatment of iron overload by phlebotomies in a patient with severe congenital dyserythropoietic anemia type II
    • Hofmann WK, Kaltwasser JP, Hoelzer D, Nielsen P, Gabbe EE (1997) Successful treatment of iron overload by phlebotomies in a patient with severe congenital dyserythropoietic anemia type II [letter]. Blood 89:3068-3069
    • (1997) Blood , vol.89 , pp. 3068-3069
    • Hofmann, W.K.1    Kaltwasser, J.P.2    Hoelzer, D.3    Nielsen, P.4    Gabbe, E.E.5
  • 36
    • 0018598173 scopus 로고
    • Hereditary dyserythropoiesis with abnormal membrane folate transport
    • Howe RB, Branda RF, Douglas SD, Brunning RD (1979) Hereditary dyserythropoiesis with abnormal membrane folate transport. Blood 54:1080-1090
    • (1979) Blood , vol.54 , pp. 1080-1090
    • Howe, R.B.1    Branda, R.F.2    Douglas, S.D.3    Brunning, R.D.4
  • 38
    • 0030775892 scopus 로고    scopus 로고
    • Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II (CDA-II)
    • Iolascon A, Miraglia del Giudice E, Perrotta S, Granatiero M, Zelante L, Gasparini P (1997) Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II (CDA-II). Blood 90:4197-4200
    • (1997) Blood , vol.90 , pp. 4197-4200
    • Iolascon, A.1    Miraglia Del Giudice, E.2    Perrotta, S.3    Granatiero, M.4    Zelante, L.5    Gasparini, P.6
  • 40
    • 0031965297 scopus 로고    scopus 로고
    • A patient with congenital dyserythropoietic anaemia type III presenting with stillbirths
    • Jijina F, Ghosh K, Yavagal D, Pathare AV, Mohanty D (1998) A patient with congenital dyserythropoietic anaemia type III presenting with stillbirths. Acata Haematol (Basel) 99:31-33
    • (1998) Acata Haematol (Basel) , vol.99 , pp. 31-33
    • Jijina, F.1    Ghosh, K.2    Yavagal, D.3    Pathare, A.V.4    Mohanty, D.5
  • 41
    • 0026884950 scopus 로고
    • Multizentrische deutsche thalassämie-studie. Konzept und erste ergebnisse
    • Kohne E, Stahnke K, Kulozik AE, Kleihauer E (1992) Multizentrische deutsche Thalassämie-Studie. Konzept und erste Ergebnisse. Klin Padiatr 204:258-263
    • (1992) Klin Padiatr , vol.204 , pp. 258-263
    • Kohne, E.1    Stahnke, K.2    Kulozik, A.E.3    Kleihauer, E.4
  • 42
    • 0025127735 scopus 로고
    • Congenital dyserythropoietic anaemia (CDA) with intrauterine symptoms and early lethal outcome
    • Kristiansen JD, Rasmussen LN, Vetner M (1990) Congenital dyserythropoietic anaemia (CDA) with intrauterine symptoms and early lethal outcome [letter]. Eur J Haematol 45:113-114
    • (1990) Eur J Haematol , vol.45 , pp. 113-114
    • Kristiansen, J.D.1    Rasmussen, L.N.2    Vetner, M.3
  • 43
    • 0017889113 scopus 로고
    • Congenital dyserythropoietic anaemia type I in two brothers presenting with neonatal jaundice
    • Lay HN, Pemberton PJ, Hilton HB (1978) Congenital dyserythropoietic anaemia type I in two brothers presenting with neonatal jaundice. Arch Dis Child 53:753-755
    • (1978) Arch Dis Child , vol.53 , pp. 753-755
    • Lay, H.N.1    Pemberton, P.J.2    Hilton, H.B.3
  • 45
    • 0020571298 scopus 로고
    • Incomplete glycosylation of erythrocyte membrane proteins in congenital dyserythropoietic anaemia type II (CDA II)
    • Mawby WJ, Tanner MJA, Anstee DJ, Clamp JR (1983) Incomplete glycosylation of erythrocyte membrane proteins in congenital dyserythropoietic anaemia type II (CDA II). Br J Haematol 55:357-368
    • (1983) Br J Haematol , vol.55 , pp. 357-368
    • Mawby, W.J.1    Tanner, M.J.A.2    Anstee, D.J.3    Clamp, J.R.4
  • 46
    • 0014991513 scopus 로고
    • Proliferation disturbances of erythroblasts in congenital dyserythropoietic anemia type I and II
    • Queisser W, Spiertz E, Jost E, Heimpel H (1971) Proliferation disturbances of erythroblasts in congenital dyserythropoietic anemia type I and II. Acta Haematol (Basel) 45:65-76
    • (1971) Acta Haematol (Basel) , vol.45 , pp. 65-76
    • Queisser, W.1    Spiertz, E.2    Jost, E.3    Heimpel, H.4
  • 47
    • 0027320705 scopus 로고
    • An unusual variant of congenital dyserythropoietic anaemia with mild maternal and lethal fetal disease
    • Roberts DJ, Nadel A, Lage J, Rutherford CJ (1993) An unusual variant of congenital dyserythropoietic anaemia with mild maternal and lethal fetal disease. Br J Haematol 84:549-551
    • (1993) Br J Haematol , vol.84 , pp. 549-551
    • Roberts, D.J.1    Nadel, A.2    Lage, J.3    Rutherford, C.J.4
  • 48
    • 0017160505 scopus 로고
    • Polyagglutinabilité due à l'antigène hempas
    • Rochant H, Gerbal A (1976) Polyagglutinabilité due à l'antigène Hempas. Rev Fr Transfus Immunohematol 19:239-245
    • (1976) Rev Fr Transfus Immunohematol , vol.19 , pp. 239-245
    • Rochant, H.1    Gerbal, A.2
  • 49
    • 0016017217 scopus 로고
    • Mechanisms of immune lysis of the red cells in hereditary erythroblastic multinuclearity with a positive acidified serum test and paroxysmal nocturnal hemoglobinuria
    • Rosse WF, Logue GL, Adams J, Crookston JH (1974) Mechanisms of immune lysis of the red cells in hereditary erythroblastic multinuclearity with a positive acidified serum test and paroxysmal nocturnal hemoglobinuria. J Clin Invest 53:31-43
    • (1974) J Clin Invest , vol.53 , pp. 31-43
    • Rosse, W.F.1    Logue, G.L.2    Adams, J.3    Crookston, J.H.4
  • 50
    • 0030844426 scopus 로고    scopus 로고
    • Non-haematological traits associated with congenital dyserythropoietic anaemia type 1: A new entity emerging
    • Sabry MA, Zaki M, Awadi SA al, Saleh Q al, Mattar MS (1997) Non-haematological traits associated with congenital dyserythropoietic anaemia type 1: a new entity emerging. Clin Dysmorphol 6:205-212
    • (1997) Clin Dysmorphol , vol.6 , pp. 205-212
    • Sabry, M.A.1    Zaki, M.2    Al Awadi, S.A.3    Al Saleh, Q.4    Mattar, M.S.5
  • 51
    • 0028155927 scopus 로고
    • Intravascular haemolysis and increased prevalence of myeloma and monoclonal gammopathy in congenital dyserythropoietic anaemia, type III
    • Sandstroem H, Wahlin A, Eriksson M, Bergstrom I, Wickramasinghe SN (1994) Intravascular haemolysis and increased prevalence of myeloma and monoclonal gammopathy in congenital dyserythropoietic anaemia, type III. Eur J Haematol 52:42-46
    • (1994) Eur J Haematol , vol.52 , pp. 42-46
    • Sandstroem, H.1    Wahlin, A.2    Eriksson, M.3    Bergstrom, I.4    Wickramasinghe, S.N.5
  • 53
    • 0019976276 scopus 로고
    • A case of variant congenital dyserythropoietic anemia revisited
    • Seip M, Skrede S, Bjerve K et al. (1982) A case of variant congenital dyserythropoietic anemia revisited. Scan J Haematol 28:278-280
    • (1982) Scan J Haematol , vol.28 , pp. 278-280
    • Seip, M.1    Skrede, S.2    Bjerve, K.3
  • 54
    • 0030670587 scopus 로고    scopus 로고
    • Neonatal manifestations of congenital dyserythropoietic anemia type I
    • Shalev H, Tamary H, Shaft D, Reznitsky P, Zaizov R (1997) Neonatal manifestations of congenital dyserythropoietic anemia type I. J Pediatr 131:95-97
    • (1997) J Pediatr , vol.131 , pp. 95-97
    • Shalev, H.1    Tamary, H.2    Shaft, D.3    Reznitsky, P.4    Zaizov, R.5
  • 55
    • 0022653660 scopus 로고
    • A case of congenital dyserythropoietic anemia in a male Chinese
    • Szeto S, Ng CS (1986) A case of congenital dyserythropoietic anemia in a male Chinese. Pathology 18:165-168
    • (1986) Pathology , vol.18 , pp. 165-168
    • Szeto, S.1    Ng, C.S.2
  • 58
    • 0021341487 scopus 로고
    • Congenital dyserythropoietic anaemia type II associated with a new type of G6PD deficiency (G6PD Gabrovizza)
    • Ventura A, Panizon F, Soranzo MG et al. (1984) Congenital dyserythropoietic anaemia type II associated with a new type of G6PD deficiency (G6PD Gabrovizza). Acta Haematol (Basel) 71:227-234
    • (1984) Acta Haematol (Basel) , vol.71 , pp. 227-234
    • Ventura, A.1    Panizon, F.2    Soranzo, M.G.3
  • 59
    • 0014191358 scopus 로고
    • Kongenitale dyserythropoietische anämie bei einem eineiigen zwillinspaar
    • Wendt F, Heimpel H (1967) Kongenitale dyserythropoietische Anämie bei einem eineiigen Zwillinspaar. Med Klin 62:172-177
    • (1967) Med Klin , vol.62 , pp. 172-177
    • Wendt, F.1    Heimpel, H.2
  • 60
    • 0031685438 scopus 로고    scopus 로고
    • Congenital dyserythropoietic anaemias: Clinical features, haematological morphology and biochemical data
    • Wickramasinghe SN (1998) Congenital dyserythropoietic anaemias: clinical features, haematological morphology and biochemical data. Blood Rev 12:178-200
    • (1998) Blood Rev , vol.12 , pp. 178-200
    • Wickramasinghe, S.N.1
  • 61
    • 0022442656 scopus 로고
    • 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
    • Wickramasinghe SN, Pippard MJ (1986) 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 39:881-890
    • (1986) J Clin Pathol , vol.39 , pp. 881-890
    • Wickramasinghe, S.N.1    Pippard, M.J.2
  • 63
    • 0029798353 scopus 로고    scopus 로고
    • 12- and folate-independent megaloblastic change and absence of the defining features of congenital dyserythropoietic anaemia types I or III
    • 12- and folate-independent megaloblastic change and absence of the defining features of congenital dyserythropoietic anaemia types I or III. Br J Haematol 95:73-76
    • (1996) Br J Haematol , vol.95 , pp. 73-76
    • Wickramasinghe, S.N.1    Andrews, V.E.2    O'Hea, A.M.3
  • 64
    • 0015253170 scopus 로고
    • Congenital dyserythropoietic anemia type II: Ultrastructural and radioautographic studies of blood and bone marrow
    • Wong KY, Hug G, Lampkin BC (1972) Congenital dyserythropoietic anemia type II: ultrastructural and radioautographic studies of blood and bone marrow. Blood 39:23-30
    • (1972) Blood , vol.39 , pp. 23-30
    • Wong, K.Y.1    Hug, G.2    Lampkin, B.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.