메뉴 건너뛰기




Volumn 102, Issue 13, 2003, Pages 4576-4581

Congenital dyserythropoietic anemia type II: Epidemiology, clinical appearance, and prognosis based on long-term observation

Author keywords

[No Author keywords available]

Indexed keywords

DEFEROXAMINE;

EID: 10744220216     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2003-02-0613     Document Type: Article
Times cited : (97)

References (54)
  • 2
    • 0014191358 scopus 로고
    • Kongenitale dyserythropoetische Anämie bei einem eineiigen Zwillingspaar
    • Wendt F, Heimpel H. Kongenitale dyserythropoetische Anämie bei einem eineiigen Zwillingspaar. Med Klinik. 1967;62:172-177.
    • (1967) Med Klinik , vol.62 , pp. 172-177
    • Wendt, F.1    Heimpel, H.2
  • 3
    • 0014264724 scopus 로고
    • Congenital dyserythropoietic anemia with karyorrhexis and multinuclearity of erythroblasts
    • Heimpel H, Wendt F. Congenital dyserythropoietic anemia with karyorrhexis and multinuclearity of erythroblasts. Helv Med Acta. 1968;34;103-115.
    • (1968) Helv Med Acta , vol.34 , pp. 103-115
    • Heimpel, H.1    Wendt, F.2
  • 4
    • 0031685438 scopus 로고    scopus 로고
    • Congenital dyserythropoietic anaemias: Clinical features, haematological morphology and new biochemical data
    • Wickramasinghe SN. Congenital dyserythropoietic anaemias: clinical features, haematological morphology and new biochemical data. Blood Rev. 1998;12:178-200.
    • (1998) Blood Rev , vol.12 , pp. 178-200
    • Wickramasinghe, S.N.1
  • 6
    • 0014545231 scopus 로고
    • Hereditary erythroblastic multinuclearity associated with a positive acidified-serum test: A type of congenital dyserythropoietic anemia
    • Crookston JH, Crookston MC, Burnie KL, et al. Hereditary erythroblastic multinuclearity associated with a positive acidified-serum test: a type of congenital dyserythropoietic anemia. Br J Haematol. 1969;17:11-26.
    • (1969) Br J Haematol , vol.17 , pp. 11-26
    • Crookston, J.H.1    Crookston, M.C.2    Burnie, K.L.3
  • 8
    • 0344716917 scopus 로고    scopus 로고
    • Congenital dyserythropoietic anemia: A first approach to epidemiology
    • EHA-abstracts
    • Heimpel H, Maier K. Congenital dyserythropoietic anemia: a first approach to epidemiology [abstract]. Haematologica. 1999;84(EHA-abstracts): 194.
    • (1999) Haematologica , vol.84 , pp. 194
    • Heimpel, H.1    Maier, K.2
  • 9
    • 0014991513 scopus 로고
    • Proliferation disturbances of erythroblasts in congenital dyserythropoietic anemia type I and II
    • Queisser W, Spiertz E, Jost E, Heimpel H. Proliferation disturbances of erythroblasts in congenital dyserythropoietic anemia type I and II. Acta Haematol. 1971;45:65-76.
    • (1971) Acta Haematol , vol.45 , pp. 65-76
    • Queisser, W.1    Spiertz, E.2    Jost, E.3    Heimpel, H.4
  • 10
    • 0345579025 scopus 로고
    • Morphological aberrations of the erythroblasts in congenital dyserythropoietic anemia type I and II
    • Munich 1970
    • Heimpel H, Forteza-Vila J, Queisser W. Morphological aberrations of the erythroblasts in congenital dyserythropoietic anemia type I and II [abstract]. Abstr Vol XIII Int Congr Int Soc Hematol. Munich 1970. 1970;371.
    • (1970) Abstr Vol XIII Int Congr Int Soc Hematol , pp. 371
    • Heimpel, H.1    Forteza-Vila, J.2    Queisser, W.3
  • 11
    • 9344251085 scopus 로고    scopus 로고
    • The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum
    • Alloisio N, Texier P, Denoroy L, et al. The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum. Blood. 1996;87:4433-4439.
    • (1996) Blood , vol.87 , pp. 4433-4439
    • Alloisio, N.1    Texier, P.2    Denoroy, L.3
  • 12
    • 0017336450 scopus 로고
    • Congenital dyserythropoetic 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. Congenital dyserythropoetic 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. 1977;35:209-215.
    • (1977) Br J Haematol , vol.35 , pp. 209-215
    • Anselstetter, V.1    Horstmann, K.2    Heimpel, H.3
  • 13
    • 0021320047 scopus 로고
    • Defect in glycosylation of erythrocyte membrane proteins in congenital dyserythropoietic anaemia type II (HEMPAS)
    • 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. 1984;56:55-68.
    • (1984) Br J Haematol , vol.56 , pp. 55-68
    • Fukuda, M.N.1    Papayannopoulou, T.2    Gordon-Smith, E.C.3    Rochant, H.4    Testa, U.5
  • 14
    • 0023225205 scopus 로고
    • Glycolipids and glycopeptides of red cell membranes in congenital dyserthropoetic anemia type II (CDA II)
    • Zdebska E, Anselstetter V, Pacuszka T, et al. Glycolipids and glycopeptides of red cell membranes in congenital dyserthropoetic anemia type II (CDA II). Br J Haematol. 1987;66:385-391.
    • (1987) Br J Haematol , vol.66 , pp. 385-391
    • Zdebska, E.1    Anselstetter, V.2    Pacuszka, T.3
  • 15
    • 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. Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II (CDA-II). Blood. 1997;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
  • 17
    • 0014423341 scopus 로고
    • Familiäre Vielkernigkeit der Erythroblasten mit makrozytärer Anämie durch ineffektive Erythropoese und gesteigerte Hämolyse
    • Minssen M, Klaus D. Familiäre Vielkernigkeit der Erythroblasten mit makrozytärer Anämie durch ineffektive Erythropoese und gesteigerte Hämolyse. Med Welt. 1968;19:2280-2283.
    • (1968) Med Welt , vol.19 , pp. 2280-2283
    • Minssen, M.1    Klaus, D.2
  • 21
    • 0017124450 scopus 로고
    • Kongenitale dyserythropoietische Anemia Typ II: Ein weiterer Fallbericht
    • Hartwich G, Riemann J, Kronert E. Kongenitale dyserythropoietische Anemia Typ II: ein weiterer Fallbericht. Med Klinik. 1976;71:2117-2122.
    • (1976) Med Klinik , vol.71 , pp. 2117-2122
    • Hartwich, G.1    Riemann, J.2    Kronert, E.3
  • 22
    • 0019288641 scopus 로고
    • Congenital dyserythropoietic anaemia type II (HEMPAS) in three siblings
    • Chrobak L, Radochova D, Smetana K. Congenital dyserythropoietic anaemia type II (HEMPAS) in three siblings. Folia Haematol (Leipz). 1980;107:628-640.
    • (1980) Folia Haematol (Leipz) , vol.107 , pp. 628-640
    • Chrobak, L.1    Radochova, D.2    Smetana, K.3
  • 23
    • 0025459278 scopus 로고
    • Morphological studies of erythrocytes in congenital dyserythropoietic anemia type II
    • Koehler M, Schmidt-Riese L, Brandeis WE. Morphological studies of erythrocytes in congenital dyserythropoietic anemia type II [in Polish]. Acta Haematol Pol. 1990;21:144-152.
    • (1990) Acta Haematol Pol , vol.21 , pp. 144-152
    • Koehler, M.1    Schmidt-Riese, L.2    Brandeis, W.E.3
  • 24
    • 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. Successful treatment of iron overload by phlebotomies in a patient with severe congenital dyserythropoietic anemia type II [letter]. Blood. 1997;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
  • 25
    • 0345579024 scopus 로고    scopus 로고
    • Congenital dyserythropoietic anemia typ II (CDAII/Hempas), new biochemical insight in a disorder or glycosylation [abstract]
    • Denecke J, Kranz C, Conradt H, Heimpel H, Weglage J, Marquardt T. Congenital dyserythropoietic anemia typ II (CDAII/Hempas), new biochemical insight in a disorder or glycosylation [abstract]. J Inherit Metabol Dis. 2001;111.
    • (2001) J Inherit Metabol Dis , pp. 111
    • Denecke, J.1    Kranz, C.2    Conradt, H.3    Heimpel, H.4    Weglage, J.5    Marquardt, T.6
  • 26
    • 0019307542 scopus 로고
    • Recommended methods for radioisotope red-cell survival studies
    • International Committee for Standardisation in Hematology. Recommended methods for radioisotope red-cell survival studies. Br J Haematol. 1980;45:659-666.
    • (1980) Br J Haematol , vol.45 , pp. 659-666
  • 27
    • 0015390766 scopus 로고
    • Red-cell abnormalities in HEMPAS (hereditary erythroblastic mulitnuclearity with a positive acidified-serum test)
    • Crookston JH, Crookston MC, Rosse WF. Red-cell abnormalities in HEMPAS (hereditary erythroblastic mulitnuclearity with a positive acidified-serum test). Br J Haematol. 1972;23(suppl): 83-91.
    • (1972) Br J Haematol , vol.23 , Issue.SUPPL. , pp. 83-91
    • Crookston, J.H.1    Crookston, M.C.2    Rosse, W.F.3
  • 28
    • 0014788744 scopus 로고
    • Positiver Säureserumtest und erhöhte Agglutinabilität durch Anti-i bei Patienten mit kongenitaler dyserythropoietischer Anämie
    • Erdmann H, Heimpel H, Buchta H. Positiver Säureserumtest und erhöhte Agglutinabilität durch Anti-i bei Patienten mit kongenitaler dyserythropoietischer Anämie. Klin Wochenschr. 1970;48:569-570.
    • (1970) Klin Wochenschr , vol.48 , pp. 569-570
    • Erdmann, H.1    Heimpel, H.2    Buchta, H.3
  • 29
    • 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. Electron and light microscopic study of the erythropoiesis of patients with congenital dyserythropoietic anemia. Blood. 1971;37:299-310.
    • (1971) Blood , vol.37 , pp. 299-310
    • Heimpel, H.1    Forteza-Vila, J.2    Queisser, W.3    Spiertz, E.4
  • 30
    • 0034773091 scopus 로고    scopus 로고
    • Clinical management of beta-thalassemia major
    • Wonke B. Clinical management of beta-thalassemia major. Semin Hematol. 2001;38:350-359.
    • (2001) Semin Hematol , vol.38 , pp. 350-359
    • Wonke, B.1
  • 31
    • 0025607312 scopus 로고
    • HEMPAS disease: Genetic defect of glycosylation
    • Fukuda MN. HEMPAS disease: genetic defect of glycosylation. Glycobiology. 1990;1:9-15.
    • (1990) Glycobiology , vol.1 , pp. 9-15
    • Fukuda, M.N.1
  • 32
    • 0006977692 scopus 로고
    • Congenital dyserythropoietic anaemia: Type IV [abstract]
    • Abstract 153
    • McBride JA, Wilson WE, Baillie N. Congenital dyserythropoietic anaemia: type IV [abstract]. Blood. 1971;38:837. Abstract 153.
    • (1971) Blood , vol.38 , pp. 837
    • McBride, J.A.1    Wilson, W.E.2    Baillie, N.3
  • 33
    • 0019976276 scopus 로고
    • A case of variant congenital dyserythropoietic anemia revisited
    • Seip M, Skrede S, Bjerve K, et al. A case of variant congenital dyserythropoietic anemia revisited. Scand J Haematol. 1982;28:278-280.
    • (1982) Scand J Haematol , vol.28 , pp. 278-280
    • Seip, M.1    Skrede, S.2    Bjerve, K.3
  • 35
    • 0018222891 scopus 로고
    • Aberrant congenital dyserythropoietic anemia with negative acidified serum tests and features of thalassemia in a Kurdish family
    • Eldor A, Matzner Y, Kahane I, Levene C, Polliack A. Aberrant congenital dyserythropoietic anemia with negative acidified serum tests and features of thalassemia in a Kurdish family. Isr J Med Sci. 1978;14:1138-1143.
    • (1978) Isr J Med Sci , vol.14 , pp. 1138-1143
    • Eldor, A.1    Matzner, Y.2    Kahane, I.3    Levene, C.4    Polliack, A.5
  • 37
    • 12944257431 scopus 로고    scopus 로고
    • Geographic distribution of CDA-II: Did a founder effect operate in Southern Italy?
    • Iolascon A, Servedio V, Carbone R, et al. Geographic distribution of CDA-II: did a founder effect operate in Southern Italy? Haematologica. 2000;85:470-474.
    • (2000) Haematologica , vol.85 , pp. 470-474
    • Iolascon, A.1    Servedio, V.2    Carbone, R.3
  • 38
    • 0032189079 scopus 로고    scopus 로고
    • Genetic heterogeneity of congenital dyserythropoietic anemia type II
    • Iolascon A, De Mattia D, Perrotta S, et al. Genetic heterogeneity of congenital dyserythropoietic anemia type II [letter]. Blood. 1998;92:2593-2594.
    • (1998) Blood , vol.92 , pp. 2593-2594
    • Iolascon, A.1    De Mattia, D.2    Perrotta, S.3
  • 39
    • 0026485205 scopus 로고
    • Congenital dyserythropoietic anemia type II diagnosed in a 69-year-old patient with iron overload
    • Greiner TC, Burns CP, Dick FR, Henry KM, Mahmood I. Congenital dyserythropoietic anemia type II diagnosed in a 69-year-old patient with iron overload. Am J Clin Pathol. 1992;98:522-525.
    • (1992) Am J Clin Pathol , vol.98 , pp. 522-525
    • Greiner, T.C.1    Burns, C.P.2    Dick, F.R.3    Henry, K.M.4    Mahmood, I.5
  • 40
    • 0035134171 scopus 로고    scopus 로고
    • Bone marrow transplantation in a case of severe, type II congenital dyserythropoietic anaemia (CDA II)
    • Iolascon A, Sabato V, De Mattia D, Locatelli F. Bone marrow transplantation in a case of severe, type II congenital dyserythropoietic anaemia (CDA II). Bone Marrow Transplant. 2001;27:213-215.
    • (2001) Bone Marrow Transplant , vol.27 , pp. 213-215
    • Iolascon, A.1    Sabato, V.2    De Mattia, D.3    Locatelli, F.4
  • 41
    • 0033943506 scopus 로고    scopus 로고
    • Gilbert's syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type II (CDA-II)
    • Perrotta S, del Giudice EM, Carbone R, et al. Gilbert's syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type II (CDA-II). J Pediatr. 2000;136:556-559.
    • (2000) J Pediatr , vol.136 , pp. 556-559
    • Perrotta, S.1    Del Giudice, E.M.2    Carbone, R.3
  • 42
    • 16944367512 scopus 로고    scopus 로고
    • Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search
    • Gasparini P, Miraglia del Giudice E, Delaunay J, et al. Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search. Am J Hum Genet. 1997;61:1112-1116.
    • (1997) Am J Hum Genet , vol.61 , pp. 1112-1116
    • Gasparini, P.1    Miraglia Del Giudice, E.2    Delaunay, J.3
  • 43
    • 0036270213 scopus 로고    scopus 로고
    • Clinical and laboratory manifestations of congenital dyserythropoietic anemia type I in young adults
    • Shalev H, Kapleushnik Y, Haeskelzon L, et al. Clinical and laboratory manifestations of congenital dyserythropoietic anemia type I in young adults. Eur J Haematol. 2002;68:170-174.
    • (2002) Eur J Haematol , vol.68 , pp. 170-174
    • Shalev, H.1    Kapleushnik, Y.2    Haeskelzon, L.3
  • 44
    • 0036301935 scopus 로고    scopus 로고
    • Noniatrogenic haemochromatosis in congenital dyserythropoietic anaemia type II is not related to C282Y and H63D mutations in the HFE gene: Report on two brothers
    • Van Steenbergen W, Matthijs G, Roskams T, Fevery J. Noniatrogenic haemochromatosis in congenital dyserythropoietic anaemia type II is not related to C282Y and H63D mutations in the HFE gene: report on two brothers. Acta Clin Belg. 2002;57:79-84.
    • (2002) Acta Clin Belg , vol.57 , pp. 79-84
    • Van Steenbergen, W.1    Matthijs, G.2    Roskams, T.3    Fevery, J.4
  • 45
    • 85047690614 scopus 로고
    • Iron loading in congenital dyserythropoietic anaemias and congenital sideroblastic anaemias
    • Cazzola M, Barosi G, Bergamaschi G, et al. Iron loading in congenital dyserythropoietic anaemias and congenital sideroblastic anaemias. Br J Haematol. 1983;54:649-654.
    • (1983) Br J Haematol , vol.54 , pp. 649-654
    • Cazzola, M.1    Barosi, G.2    Bergamaschi, G.3
  • 46
    • 0034849560 scopus 로고    scopus 로고
    • Association of phlebotomy and subcutaneous bolus injection of deferoxamine for the treatment of anemic patients with iron overload
    • Franchini M, Gandini G, Girelli D, Lippi G, de Gironcoli M, Aprili G. Association of phlebotomy and subcutaneous bolus injection of deferoxamine for the treatment of anemic patients with iron overload. Haematologica 2001;86:873-874.
    • (2001) Haematologica , vol.86 , pp. 873-874
    • Franchini, M.1    Gandini, G.2    Girelli, D.3    Lippi, G.4    De Gironcoli, M.5    Aprili, G.6
  • 47
    • 17144450604 scopus 로고    scopus 로고
    • Favorable effect of splenectomy on anemia in 3 siblings with type II congenital dyserythropoietic anemia (HEMPAS) (ultrastructural changes in erythrocytes after splenectomy)
    • Chrobak L, Spacek J. Favorable effect of splenectomy on anemia in 3 siblings with type II congenital dyserythropoietic anemia (HEMPAS) (ultrastructural changes in erythrocytes after splenectomy) [in Czech]. Vnitr Lek. 1997;43:635-638.
    • (1997) Vnitr Lek , vol.43 , pp. 635-638
    • Chrobak, L.1    Spacek, J.2
  • 48
    • 0018663467 scopus 로고
    • Studies of ineffective erythropoiesis and peripheral haemolysis in congenital dyserythropoietic anaemia type II
    • Barosi G, Cazzola M, Stefanelli M, Ascari E. Studies of ineffective erythropoiesis and peripheral haemolysis in congenital dyserythropoietic anaemia type II. Br J Haematol. 1979;43:243-250.
    • (1979) Br J Haematol , vol.43 , pp. 243-250
    • Barosi, G.1    Cazzola, M.2    Stefanelli, M.3    Ascari, E.4
  • 50
    • 0021827777 scopus 로고
    • Unclassified type of congenital dyserythropoietic anemia (CDA) with prominent peripheral erythoblastosis
    • Bethlentalvay NC, Hadnagy GS, Heimpel H. Unclassified type of congenital dyserythropoietic anemia (CDA) with prominent peripheral erythoblastosis. Br J Haematol. 1985;60:541-550.
    • (1985) Br J Haematol , vol.60 , pp. 541-550
    • Bethlentalvay, N.C.1    Hadnagy, G.S.2    Heimpel, H.3
  • 51
    • 0022764708 scopus 로고
    • Unclassified type of congenital dyserythropoietic anemia (CDA) with prominent erythroblastosis
    • Bird AR, Karabus CD, Hartley PS. Unclassified type of congenital dyserythropoietic anemia (CDA) with prominent erythroblastosis. Br J Haematol. 1986;63:797-798.
    • (1986) Br J Haematol , vol.63 , pp. 797-798
    • Bird, A.R.1    Karabus, C.D.2    Hartley, P.S.3
  • 52
    • 0025946709 scopus 로고
    • Circulating nucleated red blood cells following splenectomy in a patient with congenital dyserythropoietic anemia
    • Adams CD, Kessler JF. Circulating nucleated red blood cells following splenectomy in a patient with congenital dyserythropoietic anemia. Am J Hematol. 1991;38:120-123.
    • (1991) Am J Hematol , vol.38 , pp. 120-123
    • Adams, C.D.1    Kessler, J.F.2
  • 53
    • 0032954376 scopus 로고    scopus 로고
    • Assessment of iron stores in children with transfusion siderosis by biomagnetic liver susceptometry
    • Fischer R, Tiemann CD, Engelhardt R, et al. Assessment of iron stores in children with transfusion siderosis by biomagnetic liver susceptometry. Am J Hematol. 1999;60:289-299.
    • (1999) Am J Hematol , vol.60 , pp. 289-299
    • Fischer, R.1    Tiemann, C.D.2    Engelhardt, R.3
  • 54
    • 0031814950 scopus 로고    scopus 로고
    • Prophylactic splenectomy and cholecystectomy in mild hereditary spherocytosis: Analyzing the decision in different clinical scenarios
    • Marchetti M, Quaglini S, Barosi G. Prophylactic splenectomy and cholecystectomy in mild hereditary spherocytosis: analyzing the decision in different clinical scenarios. J Intern Med. 1998;244:217-226.
    • (1998) J Intern Med , vol.244 , pp. 217-226
    • Marchetti, M.1    Quaglini, S.2    Barosi, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.