Congenital Dyserythropoietic Anemia Type 1: Report of One Patient and Analysis of Previously Reported Patients Treated with Interferon Alpha
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Tamary H, Dgany O (1993) Congenital dyserythropoietic anemia type I. doi:NBK5313 [bookaccession]
Iolascon A, Heimpel H, Wahlin A, Tamary H (2013) Congenital dyserythropoietic anemias: molecular insights and diagnostic approach. Blood 122(13):2162–2166. doi: 10.1182/blood-2013-05-468223
Renella R (2010) Progress in the congenital dyserythropoietic anemias: Juicy but high-hanging fruits? Am J Hematol 85(12):913–914. doi: 10.1002/ajh.21900
Renella R, Wood WG (2009) The congenital dyserythropoietic anemias. Hematol Oncol Clin North Am 23(2):283–306. doi: 10.1016/j.hoc.2009.01.010
Shalev H, Avraham GP, Hershkovitz R, Levy A, Sheiner E, Levi I, Tamary H (2008) Pregnancy outcome in congenital dyserythropoietic anemia type I. Eur J Haematol 81(4):317–321. doi: 10.1111/j.1600-0609.2008.01109.x
Walshe JM (2013) The acute haemolytic syndrome in Wilson’s disease—a review of 22 patients. QJM 106(11):1003–1008. doi: 10.1093/qjmed/hct137
Mohamed KK, Alfaraidy A (2002) Congenital dyserythropoietic anemia with sideroblasts and ringed forms. Ann Saudi Med 22(5–6):408
Soysal T, Akun E, Ozaras R, Aki H, Ozturk M, Tuzuner N (2000) Congenital dyserythropoietic anemia type I with ringed sideroblasts. Haematologia (Budap) 30(1):45–49
Brien WF, Mant MJ, Etches WS (1985) Variant congenital dyserythropoietic anaemia with ringed sideroblasts. Clin Lab Haematol 7(3):231–237
Dgany O, Avidan N, Delaunay J, Krasnov T, Shalmon L, Shalev H, Eidelitz-Markus T, Kapelushnik J, Cattan D, Pariente A, Tulliez M, Cretien A, Schischmanoff PO, Iolascon A, Fibach E, Koren A, Rossler J, Le Merrer M, Yaniv I, Zaizov R, Ben-Asher E, Olender T, Lancet D, Beckmann JS, Tamary H (2002) Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Am J Hum Genet 71(6):1467–1474. doi: 10.1086/344781
Babbs C, Roberts NA, Sanchez-Pulido L, McGowan SJ, Ahmed MR, Brown JM, Sabry MA, Bentley DR, McVean GA, Donnelly P, Gileadi O, Ponting CP, Higgs DR, Buckle VJ (2013) Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. Haematologica 98(9):1383–1387. doi: 10.3324/haematol.2013.089490
Heimpel H, Anselstetter V, Chrobak L, Denecke J, Einsiedler B, Gallmeier K, Griesshammer A, Marquardt T, Janka-Schaub G, Kron M, Kohne E (2003) Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation. Blood 102(13):4576–4581. doi: 10.1182/blood-2003-02-0613
Modi G, Shah S, Madabhavi I, Panchal H, Patel A, Uparkar U, Anand A, Parikh S, Patel K, Shah K, Revannasiddaiah S (2015) Successful allogeneic hematopoietic stem cell transplantation of a patient suffering from type II congenital dyserythropoietic anemia a rare case report from Western India. Case Rep Hematol 792485. doi: 10.1155/2015/792485
Lavabre-Bertrand T, Blanc P, Navarro R, Saghroun M, Vannereau H, Braun M, Wagner A, Taib J, Lavabre-Bertrand C, Navarro M (1995) Alpha-interferon therapy for congenital dyserythropoiesis type I. Br J Haematol 89(4):929–932
Lavabre-Bertrand T, Ramos J, Delfour C, Henry L, Guiraud I, Carillo S, Wagner A, Bureau JP, Blanc P (2004) Long-term alpha interferon treatment is effective on anaemia and significantly reduces iron overload in congenital dyserythropoiesis type I. Eur J Haematol 73(5):380–383. doi: 10.1111/j.1600-0609.2004.00310.x
Virjee S, Hatton C (1996) Congenital dyserythropoiesis type I and alpha-interferon therapy. Br J Haematol 94(3):581–582
Parez N, Dommergues M, Zupan V, Chambost H, Fieschi JB, Delaunay J, Mielot F, Cramer EM, Dommergues JP, Wickramasinghe SN, Tchernia G (2000) Severe congenital dyserythropoietic anaemia type I: prenatal management, transfusion support and alpha-interferon therapy. Br J Haematol 110(2):420–423
Shamseddine A, Taher A, Jaafar H, Haidar JH, Nasr R, Arzoumanian V, Salem Z, Bazarbachi A (2000) Interferon alpha is an effective therapy for congenital dyserythropoietic anaemia type I. Eur J Haematol 65(3):207–209
Roda L, Pasche J, Fournier A, Terorotua V, Wickramasinghe SN, Tamary H, Schischmanoff PO, Tchernia G, Delaunay J (2002) Congenital dyserythropoietic anemia, type 1, in a polynesian patient: response to interferon alpha2b. J Pediatr Hematol Oncol 24(6):503–506
Yarali N, Fisgin T, Duru F, Atilla P, Muftuoglu SF, Kaymaz SF (2005) Successful management of congenital dyserythropoietic anemia type I with interferon alpha in a child. Pediatr Hematol Oncol 22(4):265–270. doi: 10.1080/08880010590935149
Marwaha RK, Bansal D, Trehan A, Garewal G (2005) Interferon therapy in congenital dyserythropoietic anemia type I/II. Pediatr Hematol Oncol 22(2):133–138. doi: 10.1080/08880010590907221
Heimpel H, Schwarz K, Ebnother M, Goede JS, Heydrich D, Kamp T, Plaumann L, Rath B, Roessler J, Schildknecht O, Schmid M, Wuillemin W, Einsiedler B, Leichtle R, Tamary H, Kohne E (2006) Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation. Blood 107(1):334–340. doi: 10.1182/blood-2005-01-0421
