Frequency of congenital dyserythropoietic anemias in Europe
Hermann Heimpel
Department of Internal Medicine III, University Hospital of Ulm, Germany
Search for more papers by this authorAndreas Matuschek
Department of Internal Medicine III, University Hospital of Ulm, Germany
Search for more papers by this authorMomin Ahmed
Department of Haematology, The Royal London Hospital, London, UK
Search for more papers by this authorBrigitte Bader-Meunier
Pédiatrie Hématologie et Immunologie, Hôpital Necker, AP-HP, Paris, France
Search for more papers by this authorAdriana Colita
Bone Marrow Transplantation Department, Fundeni Clinical Institute, Bucharest, Romania
Search for more papers by this authorJean Delaunay
INSERM U 779, Faculté de Médecine Paris-Sud, Univ Paris-Sud, Le Kremlin-Bicêtre, France
Search for more papers by this authorLoic Garcon
Service d’Hématologie Biologique, Hôtel-Dieu, Paris, France
Search for more papers by this authorFlorinda Gilsanz
Hematologia, Hospital Universitario Doce de Octubre, Madrid, Spain
Search for more papers by this authorJeroen Goede
Department of Haematology, University Hospital of Zurich, Switzerland
Search for more papers by this authorJosef Högel
Institute for Human Genetics, University Hospital of Ulm, Germany
Search for more papers by this authorElisabeth Kohne
Department of Pediatrics, University Hospital of Ulm, Germany
Search for more papers by this authorRosi Leichtle
Department of Internal Medicine III, University Hospital of Ulm, Germany
Search for more papers by this authorJuan Munoz
Servicio de Hematologia, Hospital Puerta del Mar, Cadiz, Spain
Search for more papers by this authorSilverio Perrotta
Department of Pediatrics, Second University of Naples, Italy
Search for more papers by this authorCarlo Piscopo
CEINGE, Medical Genetics, University Federico II of Naples, Italy
Search for more papers by this authorRaffaele Renella
MRC Molecular Haematology Unit, John Radcliffe Hospital, Oxford, UK
Search for more papers by this authorKlaus Schwarz
Institute for Transfusion Medicine, University of Ulm and Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, Germany
Search for more papers by this authorGabriela Smolenska-Sym
Institute of Hematology and Transfusion Medicine, Warszawa, Poland
Search for more papers by this authorSunitha Wickramasinghe
Department of Haematology, St. Marys Hospital, London, UK
Deceased. This work is dedicated to our late friend, Professor Sunitha Wickramasinghe.
Search for more papers by this authorAlberto Zanella
Department of Haematology, IRCCS Ospedale Maggiore Policlinico, Milan, Italy
Search for more papers by this authorAchille Iolascon
CEINGE, Medical Genetics, University Federico II of Naples, Italy
Search for more papers by this authorHermann Heimpel
Department of Internal Medicine III, University Hospital of Ulm, Germany
Search for more papers by this authorAndreas Matuschek
Department of Internal Medicine III, University Hospital of Ulm, Germany
Search for more papers by this authorMomin Ahmed
Department of Haematology, The Royal London Hospital, London, UK
Search for more papers by this authorBrigitte Bader-Meunier
Pédiatrie Hématologie et Immunologie, Hôpital Necker, AP-HP, Paris, France
Search for more papers by this authorAdriana Colita
Bone Marrow Transplantation Department, Fundeni Clinical Institute, Bucharest, Romania
Search for more papers by this authorJean Delaunay
INSERM U 779, Faculté de Médecine Paris-Sud, Univ Paris-Sud, Le Kremlin-Bicêtre, France
Search for more papers by this authorLoic Garcon
Service d’Hématologie Biologique, Hôtel-Dieu, Paris, France
Search for more papers by this authorFlorinda Gilsanz
Hematologia, Hospital Universitario Doce de Octubre, Madrid, Spain
Search for more papers by this authorJeroen Goede
Department of Haematology, University Hospital of Zurich, Switzerland
Search for more papers by this authorJosef Högel
Institute for Human Genetics, University Hospital of Ulm, Germany
Search for more papers by this authorElisabeth Kohne
Department of Pediatrics, University Hospital of Ulm, Germany
Search for more papers by this authorRosi Leichtle
Department of Internal Medicine III, University Hospital of Ulm, Germany
Search for more papers by this authorJuan Munoz
Servicio de Hematologia, Hospital Puerta del Mar, Cadiz, Spain
Search for more papers by this authorSilverio Perrotta
Department of Pediatrics, Second University of Naples, Italy
Search for more papers by this authorCarlo Piscopo
CEINGE, Medical Genetics, University Federico II of Naples, Italy
Search for more papers by this authorRaffaele Renella
MRC Molecular Haematology Unit, John Radcliffe Hospital, Oxford, UK
Search for more papers by this authorKlaus Schwarz
Institute for Transfusion Medicine, University of Ulm and Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, Germany
Search for more papers by this authorGabriela Smolenska-Sym
Institute of Hematology and Transfusion Medicine, Warszawa, Poland
Search for more papers by this authorSunitha Wickramasinghe
Department of Haematology, St. Marys Hospital, London, UK
Deceased. This work is dedicated to our late friend, Professor Sunitha Wickramasinghe.
Search for more papers by this authorAlberto Zanella
Department of Haematology, IRCCS Ospedale Maggiore Policlinico, Milan, Italy
Search for more papers by this authorAchille Iolascon
CEINGE, Medical Genetics, University Federico II of Naples, Italy
Search for more papers by this authorSupported by the University of Ulm, the Else Kröner-Fresenius Stiftung Bad Homburg, Germany and the European Network on Rare Congenital Anemias (ENERCA).
Abstract
Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and striking abnormalities of erythroblast morphology. The mutated genes are known for the most frequent types, CDA I and II, but data about their frequency do not exist. The objective of this retrospective study was to estimate the frequency of CDA I and II, based on all cases reported in the last 42 yr in publications and identified registries or surveys. Reports were collected of 124 and 377 confirmed cases of CDA I and CDA II cases, respectively. The cumulated incidence of both types combined varied widely between European regions, with minimal values of 0.08 cases/million in Scandinavia and 2.60 cases/million in Italy. CDA II is more frequent than CDA I, with an overall ratio of approximately 3.2, but the ratio also varied between different regions. The most likely explanations for the differences are both differences in the availability of advanced diagnostic procedures and different levels of the awareness for the diagnosis of the CDAs. The estimations reported here are most probably below the true incidence rates, because of failure to make the correct diagnosis and to underreporting. Limited data do not suggest differing levels of risk in identified ethnic groups.
References
- 1 Heimpel H, Wendt F. Congenital dyserythropoietic anemia with karyorrhexis and multinuclearity of erythroblasts. Helv Med Acta 1968; 34: 103–115.
- 2 Heimpel H, Iolascon A. Congenital dyserythropoietic anemia. In: C Beaumont, Ph Beris, Y Beuzard, C Brugnara eds. Disorders of homeostasis, erythrocytes, erythropoiesis, 2 edn. Paris: European School of Haematology; 2009: 178–201.
- 3 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: 4576–4581.
- 4 Heimpel H, Schwarz K, Ebnoether M, et al. Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance and prognosis based on long-term observation. Blood 2006; 107: 334–340.
- 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: 1467–1474.
- 6 Tamary H, Dgany O, Proust A, et al. Clinical and molecular variability in congenital dyserythropoietic anaemia type I. Br J Haematol 2005; 130: 628–634.
- 7 Bianchi P, Fermo E, Vercellati C, Boschetti C, Barcellini W, Iurlo A, Marcello AP, Righetti PG, Zanella A. Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. Hum Mutat 2009; 30: 1292–1298.
- 8 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: 936–940.
- 9 Wickramasinghe SN. Congenital dyserythropoietic anaemias: clinical features, haematological morphology and new biochemical data. Blood Rev 1998; 12: 178–200.
- 10 Wickramasinghe SN, Wood WG. Advances in the understanding of the congenital dyserythropoietic anaemias. Br J Haematol 2005; 131: 431–446.
- 11 Lewis SM, Verwilghen RL. Dyserythropoiesis. London: Academic Press, 1977.
- 12
Porter R,
Fitzsimons DW.
Congenital disorders of erythropoiesis. Amsterdam: Elsevier, 1976.
10.1002/9780470720196 Google Scholar
- 13 Sansone G. Le Anemie diserythropoetiche congenite. Pisa: Pacini, 1979.
- 14 Bittles AH. Consanguinity and its relevance to clinical genetics. Clin Genet 2001; 60: 89–98.
- 15 Bird AR, Jacobs P, Moores P. Congenital dyserythropoietic anaemia (type II) presenting with haemosiderosis. Acta Haematol 1987; 78: 33–36.
- 16 Cazzola M, Barosi G, Bergamaschi G, Dezza L, Palestra P, Polino G, Ramella S, Spriano P, Ascari E. Iron loading in congenital dyserythropoietic anaemias and congenital sideroblastic anaemias. Br J Haematol 1983; 54: 649–654.
- 17 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.
- 18 Halpern Z, Rahmani R, Levo Y. Severe hemochromatosis: the predominant clinical manifestation of congenital dyserythropoietic anemia type 2. Acta Haematol 1985; 74: 178–180.
- 19 Hovinga JA, Solenthaler M, Dufour JF. Congenital dyserythropoietic anaemia type II (HEMPAS) and haemochromatosis: a report of two cases. Eur J Gastroenterol Hepatol 2003; 15: 1141–1147.
- 20 Schatanek W, Hufnagl HD, Meiser RJ, Berberich R. Kongenitale dyserythropoetische Anämie mit Eisenspeicherkrankheit. Munch Med Wochenschr 1972; 114: 1933–1936.
- 21 Modell B, Darlison M, Birgens H, et al. Epidemiology of haemoglobin disorders in Europe: an overview. Scand J Clin Lab Invest 2007; 67: 39–69.
- 22 Iolascon A, Servedio V, Carbone R, Totaro A, Carella M, Perrotta S, Wickramasinghe SN, Delaunay J, Heimpel H, Gasparini P. Geographic distribution of CDA-II: did a founder effect operate in Southern Italy? Haematologica 2000; 85: 470–474.
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