Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress 2023 EHA Congress 2023 ASCO Annual Meeting
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on sleep in brain health

LIVE: Thursday 2nd May 2024, 18:00-19:30 (CEST)

Quality sleep is essential for health. But what happens to our brains when sleep patterns are disturbed? Join our experts to explore the interplay between sleep disruption and neurological diseases, and the questions that you need to be asking your patients to help you prevent the harmful effects of sleep deprivation.
ADVANCED SEARCH
Log in
Top
International Journal of Hematology
Published in: International Journal of Hematology 3/2010

01-10-2010 | Progress in Hematology

Congenital dyserythropoietic anemia

Authors: Takahiro Kamiya, Atsushi Manabe

Published in: International Journal of Hematology | Issue 3/2010

Login to get access

Abstract

Congenital dyserythropoietic anemias (CDAs) are a heterogeneous group of rare hereditary disorders of erythropoiesis characterized by morphologic abnormal erythroblasts in the bone marrow. Three types of the disease are known as type I, II and III, and the variant type of CDA and several minor subgroups of CDA have been also reported since the first classification. Recently, responsible genes for type I (CDAN1) and type II (SEC23B) have been identified and the molecular pathogenesis of the disease is currently being explored. Although CDAs rarely transform to myelodysplastic syndrome or leukemia, the disease is important to understand the mechanism of hemopoiesis in humans.
Literature
1.
Crookston JH, Godwin TF, Wjk R, et al. Congenital dyserythropoietic anemia (abstract). XIth congress of the international society of haematology, Sydney: vol. 18; 1966.
2.
Heimpel H, Wendt F, Klemm D, et al. Congenital dyserythropoietic anemia. Arch Klin Med. 1968;215:174–94.PubMed
3.
Wickramasinghe SN, Wood WG. Advances in the understanding of the congenital dyserythropoietic anaemias. Br J Haematol. 2005;131:431–46.CrossRefPubMed
4.
Bessler M, Mason PJ, Link DC. Inherited bone marrow failure syndrome. In: Orkin SH, Nathan DG, Ginsburg D, Look AT, Fisher DE, Lux SE, et al., editors. Hematology of infancy and childhood. 7th ed. Philadelphia: Saunders; 2009. p. 307–95.
5.
Dgany O, Avidan N, Delaunay J, et al. Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Am J Hum Genet. 2002;71:1467–74.CrossRefPubMed
6.
Greiner TC, Burns CP, Dick FR, et al. Congenital dyserythropoietic anemia type II diagnosed in a 69-year-old patient with iron overload. Am J Clin Pathol. 1992;98:522–5.PubMed
7.
Iolascon A, Delaunay J, Wickramasinghe SN, et al. Natural history of congenital dyserythropoietic anemia type II. Blood. 2001;98(4):1258–60.CrossRefPubMed
8.
Heimpel H. Congenital dyserythropoietic anemias: epidemiology, clinical significance, and progress in understanding their pathogenesis. Ann Hematol. 2004;83:613–21.CrossRefPubMed
9.
Renella R, Wood WG. The congenital dyserythropoietic anemias. Hematol Oncol Clin N Am. 2009;23:283–306.CrossRef
10.
Heimpel H, Anselstetter V, Chrobak L, et al. Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation. Blood. 2003;102:4576–5581.CrossRefPubMed
11.
Lavabre-Bertrand T, Blanc P, Navarro R, et al. Alpha-interferon therapy for congenital dyserythropoietic anemia type I. Br J Haematol. 1995;89(4):929–32.CrossRefPubMed
12.
Shamseddine A, Taher A, Jaafar H, et al. Interferon alpha is an effective therapy for congenital dyserythropoietic anemia type I. Eur J Haematol. 2000;65:207–9.CrossRefPubMed
13.
Lavabre-Bertrand T, Ramos J, Delfour C, et al. Long-term alpha interferon treatment is effective ON anemia and significantly reduces iron overload in congenital dyserythropoiesis type I. Eur J Haematol. 2004;73:380–3.CrossRefPubMed
14.
Marwaha RK, Bansal D, Trehan A, et al. Interferon therapy in congenital dyserythropoietic anemia type I/II. Pediatr Hematol Oncol. 2005;22:133–8.CrossRefPubMed
15.
Goede JS, Benz R, Fehr J, et al. Congenital dyserythropoietic anemia type I with bone abnormalities, mutations of the CDAN I gene, and significant responsiveness to alpha-interferon therapy. Ann Hematol. 2006;85:591–5.CrossRefPubMed
16.
Ayas M, al-Jefri A, Baothman A, et al. Transfusion-dependent congenital dyserythropoietic anemia type I successfully treated with allogenic stem cell transplantation. Bone Marrow Transplant. 2002;29:681–2.CrossRefPubMed
17.
Iolascon A, Sabato V, de Mattia D, et al. Bone marrow transplantation in a case of severe, type II congenital dyserythropoietic anaemia (CDA II). Bone Marrow Transplant. 2001;27:213–5.CrossRefPubMed
18.
Remacha AF, Badell I, Pujoi-Moix N, et al. Hydrops fetalis-associated congenital dyserythropoietic anemia treated with intrauterine transfusions and bone marrow transplantation. Blood. 2002;100:356–8.CrossRefPubMed
19.
Heimpel H, Schwarz K, Ebnother M, et al. Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation. Blood. 2006;107:334–40.CrossRefPubMed
20.
Shalev H, Kapelushnik J, Moser A, et al. A comprehensive study of the neonatal manifestations of congenital dyserythropoietic anemia type I. J Pediatr Hematol Oncol. 2004;26:746–8.CrossRefPubMed
21.
Parez N, Dommergues M, Zupan V, et al. Severe congenital dyserythropoietic anaemia type I: prenatal management, transfusion support and alpha-interferon therapy. Br J Haematol. 2000;110:420–3.CrossRefPubMed
22.
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;68:170–4.CrossRefPubMed
23.
Wickramasinghe SN, Thein SL, Srichairatanakool S, Porter JB. Determinants of iron status and bilirubin levels in congenital dyserythropoietic anaemia type I. Br J Haematol. 1999;107(3):522–5.CrossRefPubMed
24.
Papanikolaou G, Tzilianos M, Christakis JI, et al. Hepcidin in iron overload disorders. Blood. 2005;105:4103–5.CrossRefPubMed
25.
Bader-Meunier B, Leverger G, Tchernia G, et al. Clinical and laboratory manifestations of congenital dyserythropoietic anemia type I in a cohort of French children. J Pediatr Hematol Oncol. 2005;27:416–9.CrossRefPubMed
26.
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. 1986;39:881–90.CrossRefPubMed
27.
Jean R, Dossa D, Navarro M, et al. Congenital aplastic anemia, type I. Arch Fr Pediatr. 1975;32:337–48.PubMed
28.
Heimpel H, Forteza-Vila J, Queisser W, Spiertz E. Electron and light microscopic study of the erythroblasts of patients with congenital dyserythropoietic anemia. Blood. 1971;37:299–310.PubMed
29.
Alloisio N, Jaccoud P, Dorleac E, et al. Alterations of globin chain synthesis and of red cell membrane proteins in congenital dyserythropoietic anemia I and II. Pediatr Res. 1982;16:1016–21.CrossRefPubMed
30.
Tamary H, Shalmon L, Shalev H, et al. Localization of the gene for congenital dyserythropoietic anemia type I to a <1-cM interval on chromosome 15q15.1–15.3. Am J Hum Genet. 1998;62:1062–9.CrossRefPubMed
31.
Tamary H, Dgany O, Proust A, et al. Clinical and molecular variability in congenital dyserythropoietic anaemia type I. Br J Haematol. 2005;130:628–34.CrossRefPubMed
32.
Iolascon A, Delaunay J. Close to unraveling the secrets of congenital dyserythropoietic anemia type I and II. Haematologica. 2009;94:599–602.CrossRefPubMed
33.
Noy-Lotan S, Dgany O, Lahmi R, et al. Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1) is cell cycle-regulated. Haematologica. 2009;94:629–37.CrossRefPubMed
34.
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;136:556–9.CrossRefPubMed
35.
Gasparini P, Miraglia del Giudice E, Delaunay J, et al. Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genome wide search. Am J Hum Genet. 1997;61:1112–6.CrossRefPubMed
36.
Lanzara C, Ficarella R, Totaro A, et al. Congenital dyserythropoietic anemia type II: exclusion of seven candidate genes. Blood Cells Mol Dis. 2003;30:22–9.CrossRefPubMed
37.
Schwarz K, Iolascon A, Verissimo F, et al. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet. 2009;41:936–40.CrossRefPubMed
38.
Jones B, Jones EL, Bonney SA, et al. Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. Nat Genet. 2003;34:29–31.CrossRefPubMed
39.
Boyadjiev SA, Fromme JC, Ben J, et al. Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking. Nat Genet. 2006;38:1192–7.CrossRefPubMed
40.
Iolascon A, Russo R, Esposito MR, et al. Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype–phenotype relationship. Haematologica. 2010;95:708–15.CrossRefPubMed
41.
Sandstorm H, Wahlin A. Congenital dyserythropoietic anemia type III. Haematologica. 2000;85:737–57.
42.
Wolff JA, Von Hofe FH. Familial erythroid multinuclearity. Blood. 1951;6:1274–83.PubMed
43.
Bergstorm I, Jacobsson L. Hereditary benign erythroreticulosis. Blood. 1962;19:296–303.
44.
Lind L, Sandstorm H, Wahlin A, et al. Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21–q25. Hum Mol Genet. 1995;4:109–12.CrossRefPubMed
45.
Sandstorm H, Wahlin A, Eriksson M, et al. Intravascular haemolysis and increased prevalence of myeloma and monoclonal gammopathy in congenital dyserythropoietic anemia, type III. Eur J Haematol. 1994;52:42–6.CrossRef
46.
Byrnes RK, Dhru R, Brady AM, et al. Congenital dyserythropoietic anemia in treated Hodgkin’s disease. Hum Pathol. 1980;11:485–6.CrossRefPubMed
47.
McCluggage WG, Hull D, Mayne E, et al. Malignant lymphoma in congenital dyserythropoietic anaemia type III. J Clin Pathol. 1996;49:599–602.CrossRefPubMed
48.
Wickramasinghe SN, Parry TE, Williams C, et al. A new case of congenital dyserythropoietic anaemia, type III: studied of the cell cycle distribution and ultrastructure of erythroblasts and of nucleic acid synthesis in marrow cells. J Clin Pathol. 1982;35:1103–9.CrossRefPubMed
49.
Wickramasinghe SN, Wahlin A, Anstee D, et al. Observations on two members of the Swedish family with congenital dyserythropoietic anaemia, type III. Eur J Haematol. 1993;50:213–21.CrossRefPubMed
50.
Nichols KE, Crispino JD, Poncz M, et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet. 2000;24:266–70.CrossRefPubMed
51.
Taga T, Itoh T, Asami K, et al. Congenital dyserythropoietic anemia in Japanese children. Jpn J Pediatr Hematol. 2008;22:233–8 (in Japanese).
Metadata
Title
Congenital dyserythropoietic anemia
Authors
Takahiro Kamiya
Atsushi Manabe
Publication date
01-10-2010
Publisher
Springer Japan
Published in
International Journal of Hematology / Issue 3/2010
Print ISSN: 0925-5710
Electronic ISSN: 1865-3774
DOI
https://doi.org/10.1007/s12185-010-0667-9

Other articles of this Issue 3/2010

International Journal of Hematology 3/2010 Go to the issue

Progress in Hematology

Hereditary sideroblastic anemia: pathophysiology and gene mutations

Original Article

Intensified consolidation therapy with dose-escalated doxorubicin did not improve the prognosis of adults with acute lymphoblastic leukemia: the JALSG-ALL97 study

Rapid Communication

Loss of promoter methylation contributes to the expression of functionally impaired PRDM1β isoform in diffuse large B-cell lymphoma

Original Article

Molecular basis and hematological features of hemoglobin variants in Southern Thailand

Case Report

Thiamine-responsive megaloblastic anemia syndrome

Letter to the Editor

Early prediction of a long-term outcome by neutrophil-FISH in patients with CML receiving imatinib mesylate
Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Watch now

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras
Prof. Fabrice Barlesi
Developed by: Springer Medicine
Image Credits