Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II
Corresponding Author
Sule Unal
Division of Pediatric Hematology, Hacettepe University, Ankara, Turkey
Sule Unal, Division of Pediatric Hematology, Hacettepe University, Ankara 06100, Turkey
Tel.: +90 312 305 1170
Fax: +90 312 311 2398
E-mail: [email protected]
Search for more papers by this authorRoberta Russo
Department of Molecular Medicine and Medical Biotechnologies, University Federico II, Naples, Italy
CEINGE Advanced Biotechnologies, Naples, Italy
Search for more papers by this authorFatma Gumruk
Division of Pediatric Hematology, Hacettepe University, Ankara, Turkey
Search for more papers by this authorBaris Kuskonmaz
Division of Pediatric Hematology, Hacettepe University, Ankara, Turkey
Search for more papers by this authorMualla Cetin
Division of Pediatric Hematology, Hacettepe University, Ankara, Turkey
Search for more papers by this authorTulin Sayli
Ankara Pediatric Hematology and Oncology Research Hospital, Ankara, Turkey
Search for more papers by this authorBetul Tavil
Division of Pediatric Hematology, Hacettepe University, Ankara, Turkey
Search for more papers by this authorConcetta Langella
Department of Molecular Medicine and Medical Biotechnologies, University Federico II, Naples, Italy
CEINGE Advanced Biotechnologies, Naples, Italy
Search for more papers by this authorAchille Iolascon
Department of Molecular Medicine and Medical Biotechnologies, University Federico II, Naples, Italy
CEINGE Advanced Biotechnologies, Naples, Italy
Search for more papers by this authorDuygu Uckan Cetinkaya
Division of Pediatric Hematology, Hacettepe University, Ankara, Turkey
Search for more papers by this authorCorresponding Author
Sule Unal
Division of Pediatric Hematology, Hacettepe University, Ankara, Turkey
Sule Unal, Division of Pediatric Hematology, Hacettepe University, Ankara 06100, Turkey
Tel.: +90 312 305 1170
Fax: +90 312 311 2398
E-mail: [email protected]
Search for more papers by this authorRoberta Russo
Department of Molecular Medicine and Medical Biotechnologies, University Federico II, Naples, Italy
CEINGE Advanced Biotechnologies, Naples, Italy
Search for more papers by this authorFatma Gumruk
Division of Pediatric Hematology, Hacettepe University, Ankara, Turkey
Search for more papers by this authorBaris Kuskonmaz
Division of Pediatric Hematology, Hacettepe University, Ankara, Turkey
Search for more papers by this authorMualla Cetin
Division of Pediatric Hematology, Hacettepe University, Ankara, Turkey
Search for more papers by this authorTulin Sayli
Ankara Pediatric Hematology and Oncology Research Hospital, Ankara, Turkey
Search for more papers by this authorBetul Tavil
Division of Pediatric Hematology, Hacettepe University, Ankara, Turkey
Search for more papers by this authorConcetta Langella
Department of Molecular Medicine and Medical Biotechnologies, University Federico II, Naples, Italy
CEINGE Advanced Biotechnologies, Naples, Italy
Search for more papers by this authorAchille Iolascon
Department of Molecular Medicine and Medical Biotechnologies, University Federico II, Naples, Italy
CEINGE Advanced Biotechnologies, Naples, Italy
Search for more papers by this authorDuygu Uckan Cetinkaya
Division of Pediatric Hematology, Hacettepe University, Ankara, Turkey
Search for more papers by this authorAbstract
CDA are a group of inherited, rare diseases that are characterized by dyserythropoiesis and ineffective erythropoiesis associated with transfusion dependency in approximately 10% of cases. For these latter patients, the only curative treatment is HSCT. There are very limited data on HSCT experience in this rare disease. Herein, we report a five-yr six-month-old girl with compound heterozygous mutations in SEC23B gene, who was diagnosed to have CDA type II and underwent successful HSCT from her matched sibling donor.
References
- 1Iolascon A, Russo R, Delaunay J. Congenital dyserythropoietic anemias. Curr Opin Hematol 2011: 18: 146–151.
- 2Ayas M, Al-Jefri A, Baothman A, et al. Transfusion-dependent congenital dyserythropoietic anemia type I successfully treated with allogeneic stem cell transplantation. Bone Marrow Transplant 2002: 29: 681–682.
- 3Iolascon A, Heimpel H, Wahlin A, Tamary H. Congenital dyserythropoietic anemias: Molecular insights and diagnostic approach. Blood 2013: 122: 2162–2166.
- 4Dgany O, Avidan N, Delaunay J, et al. Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Am J Hum Genet 2002: 71: 1467–1474.
- 5Schwarz K, Iolascon A, Verissimo F, et al. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet 2009: 41: 936–940.
- 6Bianchi P, Fermo E, Vercellati C, et al. Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. Hum Mutat 2009: 30: 1292–1298.
- 7Liljeholm M, Irvine AF, Vikberg AL, et al. Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23. Blood 2013: 121: 4791–4799.
- 8Iolascon A, Esposito MR, Russo R. Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: From morphology to molecular approach. Haematologica 2012: 97: 1786–1794.
- 9Alloisio 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.
- 10Goede JS, Benz R, Fehr J, Schwarz K, Heimpel H. Congenital dyserythropoietic anemia type I with bone abnormalities, mutations of the CDAN I gene, and significant responsiveness to alpha-interferon therapy. Ann Hematol 2006: 85: 591–595.
- 11Iolascon A, Delaunay J, Wickramasinghe SN, et al. Natural history of congenital dyserythropoietic anemia type II. Blood 2001: 98: 1258–1260.
- 12Buchbinder D, Nugent D, Vu D, et al. Unrelated hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia and iron overload. Pediatr Transplant 2012: 16: E69–E73.
- 13Renella R, Wood WG. The congenital dyserythropoietic anemias. Hematol Oncol Clin North Am 2009: 23: 283–306.
- 14Iolascon 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.
- 15Remacha AF, Badell I, Pujol-Moix N, et al. Hydrops fetalis associated congenital dyserythropoietic anemia treated with intrauterine transfusions and bone marrow transplantation. Blood 2002: 100: 356–358.
- 16Ariffin WA, Karnaneedi S, Choo KE, et al. Congenital dyserythropoietic anaemia: Report of three cases. J Paediatr Child Health 1996: 32: 191.
- 17Braun M, Wölfl M, Wiegering V, et al. Successful treatment of an infant with CDA type II by intrauterine transfusions and postnatal stem cell transplantation. Pediatr Blood Cancer 2014: 61: 743–745.
- 18Lucarelli G, Galimberti M, Polchi P, et al. Bone marrow transplantation in patients with thalassemia. N Engl J Med 1990: 322: 417–421.
- 19Sodani P, Gaziev D, Polchi P, et al. New approach for bone marrow transplantation in patients with class 3 thalassemia aged younger than 17 years. Blood 2004: 104: 1201–1203.
- 20Bacigalupo A. Antilymphocyte/thymocyte globulin for graft versus host disease prophylaxis: Efficacy and side effects. Bone Marrow Transplant 2005: 35: 225–231.
- 21Ayuk F, Diyachenko G, Zabelina T, et al. Comparison of two doses of antithymocyte globulin in patients undergoing matched unrelated donor allogeneic stem cell transplantation. Biol Blood Marrow Transplant 2008: 14: 913–919.
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