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
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on medication adherence

LIVE: Thursday 27th June 2024, 18:00-19:30 (CEST)
Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.
ADVANCED SEARCH
Log in
Top
Annals of Hematology
Published in: Annals of Hematology 10/2004

01-10-2004 | Review Article

Congenital dyserythropoietic anemias: epidemiology, clinical significance, and progress in understanding their pathogenesis

Author: Hermann Heimpel

Published in: Annals of Hematology | Issue 10/2004

Login to get access

Abstract

The congenital dyserythropoietic anemias (CDAs) comprise a group of rare hereditary disorders of erythropoiesis, characterized by ineffective erythropoiesis as the predominant mechanism of anemia and by distinct morphological abnormalities of the majority of erythroblasts in the bone marrow. The classification in three types as proposed in 1968 is still valid, but there is genetic heterogeneity within each type, and there are additional variants of unknown genetic basis. CDA II is the most frequent, and the nonfamilial type of CDA III the rarest group. The genes of CDA II and CDA III were mapped to chromosome 20 and 15, respectively, and the gene of CDA I on 15q was recently cloned. Therapeutic decision making requires definition of the type, an estimate of individual severity, and presence of or risk for complications. Therapeutic measures include interferon-α for CDA I, splenectomy for CDA II, and iron depletion for all individuals at risk for secondary hemochromatosis.
Footnotes
Literature
1.
Adams CD, Kessler JF (1991) Circulating nucleated red blood cells following splenectomy in a patient with congenital dyserythropoietic anemia. Am J Hematol 38:120–123PubMed
2.
Alloisio N, Texier P, Denoroy L, Berger C, Miraglia del Giudice E, Perrotta S, Iolascon A, Gilsanz F, Berger G, Guichard J (1996) The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic reticulum. Blood 87:4433–4439PubMed
3.
Anselstetter V, Horstmann K, Heimpel H (1977) 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 35:209–215PubMed
4.
Ayas M, al Jefri A, Baothman A, al Mahr M, Mustafa MM, Khalil S, Karaoui M, Solh H (2002) Transfusion-dependent congenital dyserythropoietic anemia type I successfully treated with allogeneic stem cell transplantation. Bone Marrow Transplant 29:681–682CrossRefPubMed
5.
Barosi G, Cazzola M, Stefannelli M, Ascari E (1979) Studies of ineffective erythropoiesis and peripheral haemolysis in congenital dyserythropoietic anaemia type II. Br J Haematol 43:243–250PubMed
6.
Benjamin JT, Rosse WF, Dalldorf FG, Mc Millan CW (1975) Congenital dyserythropoetic anemia—type IV. J Pediatr 87:210–216PubMed
7.
Bergström I, Jacobsson L (1962) Hereditary benign erythroreticulosis. Blood 19:296–303PubMed
8.
Bethlenfalvay NC, Hadnagy GS, Heimpel H (1985) Unclassified type of congenital dyserythropoietic anemia (CDA) with prominent peripheral erythoblastosis. Br J Haematol 60:541–550PubMed
9.
Bethlenfalvay NC, Phaure TAJ, Phlyliky RL, Bowman RP (1986) Nuclear bridging of erythroblasts in acquired dyserythropoesis: an early and transient preleukemic marker. Am J Hematol 21:315–322PubMed
10.
Bird AR, Karabus CD, Hartley PS (1985) Type IV congenital dyserythropoietic anemia with unusual response to splenectomy. Am J Pediatr Hematol Oncol 7:196–199PubMed
11.
Boogaerts MA, Verwilghen RL (1982) Variants of congenital dyserythropoietic anaemia: an update. Haematologica (Budapest) 15:211–219
12.
Breton-Gorius J, Daniel M, Clauvel JP, Dreyfus B (1973) Anomalies ultrastructurales des érythroblastes et des érythrocytes dans six cas de dysérythropoièse congénitale. Nouv Rev Fr Hematol 13:23–50PubMed
13.
Byrnes RK, Dhru R, Brady AM, Galen WP, Hopper B (1980) Congenital dyserythropoietic anemia in treated Hodgkin’s disease. Hum Pathol 11:485–486PubMed
14.
Carter C, Darbyshire PJ, Wickramasinghe SN (1989) A congenital dyserythropoietic anaemia variant presenting as hydrops foetalis. Br J Haematol 72:289–290PubMed
15.
Cazzola M, Barosi G, Bergamaschi G, Dezza L, Palestra P, Polino G, Ramella S, Spriano P, Ascari E (1983) Iron loading in congenital dyserythropoietic anaemias and congenital sideroblastic anaemias. Br J Haematol 54:649–654PubMed
16.
Cazzola M, Beguin Y, Bergamaschi G, Guarnone R, Cerani P, Barella S, Cao A, Galanello R (1999) Soluble transferrin receptor as a potential determinant of iron loading in congenital anaemias due to ineffective erythropoiesis. Br J Haematol 106:752–755CrossRefPubMed
17.
Chrobak L, Spacek J (1997) Favorable effect of splenectomy on anemia in 3 siblings with type II congenital dyserythropoietic anemia (HEMPAS). Ultrastructural changes in erythrocytes after splenectomy. Vnitr Lek 43:635–638PubMed
18.
Clauvel JP, Cosson A, Breton-Gorius J, Flandrin G, Faille A, Bonnet-Gajdos M, Turpin F, Bernard J (1972) Dysérythropoièse congénitale. Nouv Rev Fr Hematol 12:653–672PubMed
19.
Crookston JH, Crookston MC (1982) HEMPAS: clinical, hematological and serologic features. In: Salmon C (ed) Blood groups and other red cell markers in health and disease. Masson, New York, pp 29–38
20.
Crookston JH, Godwin TF, Wightmann KJR, Dacie JV, Lewis SM, Patterson M (1966) Congenital dyserythropoietic anemia (abstract). XIth Congress of the International Society of Hematology, Sydney
21.
Crookston JH, Crookston MC, Burnie KL, Francombe WH, Dacie JV, Davis JA, Lewis SM (1969) Hereditary erythroblastic multinuclearity associated with a positive acidified-serum test: a type of congenital dyserythropoietic anemia. Br J Haematol 17:11–26PubMed
22.
David G, VanDorpe A (1977) Aberrant congenital dyserythropoietic anemias. In: Lewis SM, Verwilghen RL (eds) Dyserythropoiesis. Academic, London, pp 92–102
23.
Delaunay J, Iolascon A (1999) The congenital dyserythropoietic anaemias. Baillieres Best Pract Res Clin Haematol 12:691–705CrossRefPubMed
24.
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 71:1467–1474CrossRefPubMed
25.
Eldor A, Matzner Y, Kahane I, Levene C, Polliack A (1978) Aberrant congenital dyserythropoietic anemia with negative acidified serum tests and features of thalassemia in a Kurdish family. Isr J Med Sci 14:1138–1143PubMed
26.
Enquist RW, Gockerman JP, Jenis EH, Warkel RL, Dillon DE (1972) Type II congenital dyserythropoietic anemia. Ann Intern Med 77:371–376PubMed
27.
Erdmann H, Heimpel H, Buchta H (1970) Positiver Säureserumtest und erhöhte Agglutinabilität durch Anti-i bei Patienten mit kongenitaler dyserythropoietischer Anämie. Klin Wochenschr 48:569–570PubMed
28.
Facon T, Mannessier L, Lepelly P, Weill J, Fenaux P, Dupriez B, Morel P, Jouet JP, Lepelley P (1990) Congenital dyserythropoietic anemia type I. Report on monozygotic twins with associated hemochromatosis and short stature. Blut 61:248–251PubMed
29.
Faille A, Najean Y, Dresch C (1972) Cinétique de l’érythropoièse dans 14 cas “d’érythropoièse inefficace” avec anomalies morphologiques des érythroblastes et polynucléarité. Nouv Rev Fr Hematol 12:631–652PubMed
30.
Fischer R, Tiemann CD, Engelhardt R, Nielsen P, Durken M, Gabbe EE, Janka GE (1999) Assessment of iron stores in children with transfusion siderosis by biomagnetic liver susceptometry. Am J Hematol 60:289–299CrossRefPubMed
31.
Franchini M, Gandini G, Girelli D, Lippi G, de Gironcoli M, Aprili G (2001) Association of phlebotomy and subcutaneous bolus injection of deferoxamine for the treatment of anemic patients with iron overload. Haematologica 86:873–874PubMed
32.
Fukuda MN (1993) Congenital dyserythropoietic anaemia type II (HEMPAS) and its molecular basis. Ballieres Clin Haematol 6:493–511
33.
Fukuda MN (1999) HEMPAS. Hereditary erythroblastic multinuclearity with positive acidified serum lysis test. Biochim Biophys Acta 1455:231–239CrossRefPubMed
34.
Fukuda MN, Dell A, Scartezzini P (1987) Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyltransferase II. J Biol Chem 262:7195–7206PubMed
35.
Gasser C (1981) Congenital-dyserythropoietic-malformation syndrome (abstract). 6th meeting of the International Society of Hematology, Athens
36.
Greiner TC, Burns CP, Dick FR, Henry KM, Mahmood I (1992) Congenital dyserythropoietic anemia type II diagnosed in a 69-year-old patient with iron overload. Am J Clin Pathol 98:522–525PubMed
37.
Heimpel H (1975) Dyserythropoiese und dyserythropoietische Anämien. Schweiz Med Wochenschr 105:1562–1568PubMed
38.
Heimpel H, Wendt F (1968) Congenital dyserythropoietic anemia with karyorrhexis and multinuclearity of erythroblasts. Helv Med Acta 34:103–115PubMed
39.
Heimpel H, Wendt F, Klemm D, Schubothe H, Heilmeyer L (1968) Kongenitale dyserythropoietische Anämie. Dtsch Arch Klin Med 215:174–194
40.
Heimpel H, Forteza-Vila J, Queisser W (1970) Morphological aberrations of the erythroblasts in congenital dyserythropoietic anemia type I and II (abstract). XIIIth International Congress of the International Society of Hematology, Munich, p 371
41.
Heimpel H, Forteza-Vila J, Queisser W, Spiertz E (1971) Electron and light microscopic study of the erythropoiesis of patients with congenital dyserythropoietic anemia. Blood 37:299–310PubMed
42.
Heimpel H, Maier K, Kohne E (1999) Kongenitale dyserythropoietische Anämien: Klinisches Bild und neue Erkenntnisse zu Epidemiologie, Pathogenese und Behandlung. Monatsschr Kinderheilkd 147:992–999CrossRef
43.
Heimpel H, Eggl C, Griesshammer A, Maier K, Kohne E (2002) Splenectomy in congenital dyserythropoietic anemia (abstract). Egypt J Haematol 27 [Suppl 1]:83–84
44.
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 102:4576–4581CrossRefPubMed
45.
Hodges VM, Molloy GY, Wickramasinghe SN (1999) Genetic heterogeneity of congenital dyserythropoietic anemia type I (letter). Blood 94:1139–1140PubMed
46.
Hofmann WK, Kaltwasser JP, Hoelzer D, Nielsen P, Gabbe EE (1997) Successful treatment of iron overload by phlebotomies in a patient with severe congenital dyserythropoietic anemia type II (letter). Blood 89:3068–3069PubMed
47.
Holmberg L, Jansson L, Rausing A, Henriksson P (1978) Type I congenital dyserythropoietic anaemia with myelopoietic abnormalities and hand malformations. Scand J Haematol 21:72–79PubMed
48.
Hovinga JA, Solenthaler M, Dufour JF (2003) Congenital dyserythropoietic anaemia type II (HEMPAS) and haemochromatosis: a report of two cases. Eur J Gastroenterol Hepatol 15:1141–1147CrossRefPubMed
49.
Iolascon A, D’Agostaro G, Perrotta S, Izzo P, Tavano R, Miraglia del Giudice B (1996) Congenital dyserythropoietic anemia type II: molecular basis and clinical aspects. Haematologica 81:543–559PubMed
50.
Iolascon A, Miraglia del Giudice E, Perrotta S, Granatiero M, Zelante L, Gasparini P (1997) Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II (CDA-II). Blood 90:4197–4200PubMed
51.
Iolascon A, De Mattia D, Perrotta S, Carella M, Gasparini P, Lambertenghi Deliliers G (1998) Genetic heterogeneity of congenital dyserythropoietic anemia type II (letter). Blood 92:2593–2594PubMed
52.
Iolascon A, Servedio V, Carbone R, Totaro A, Carella M, Perrotta S, Wickramasinghe SN, Delaunay J, Heimpel H, Gasparini P (2000) Geographic distribution of CDA-II: did a founder effect operate in Southern Italy? Haematologica 85:470–474PubMed
53.
Iolascon A, Delaunay J, Wickramasinghe SN, Perrotta S, Gigante M, Camaschella C (2001) Natural history of congenital dyserythropoietic anemia type II. Blood 98:1258–1260CrossRefPubMed
54.
Iolascon A, Sabato V, De Mattia D, Locatelli F (2001) Bone marrow transplantation in a case of severe type II congenital dyserythropoietic anaemia (CDA II). Bone Marrow Transplant 27:213–215CrossRefPubMed
55.
Koenig E, Osieka R, Brittinger G (1973) Atypische kongenitale dyserythropoietische Anämie mit Thrombozytopenie. Verh Dtsch Ges Inn Med 79:490PubMed
56.
Krouwels FH, Bresser P, von dem Borne EKG (1999) Extramedullary hematopoisis: breath-taking and hair-raising. N Engl J Med 341:1702–1703CrossRef
57.
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 89:929–932PubMed
58.
Le Merrer M, Girot R, Parent P, Cormier Daire V, Maroteaux P (1995) Acral dysostosis dyserythropoiesis syndrome. Eur J Pediatr 154:384–388CrossRefPubMed
59.
Lillicrap DP, Corbett WE, Giles AR, Ginsburg AD (1987) Erythroblast multinuclearity in bone marrow and spleen. Congenital dyserythropoietic anemia-like abnormalities without functional evidence of dyserythropoiesis. Arch Pathol Lab Med 111:536–539PubMed
60.
Lind L, Sandstroem H, Wahlin A, Eriksson M, Nilsson Sojka B, Sikstrom C, Holmgren G (1995) Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21–q25. Hum Mol Genet 4:109–112PubMed
61.
Marchetti M, Quaglini S, Barosi G (1998) Prophylactic splenectomy and cholecystectomy in mild hereditary spherocytosis: analyzing the decision in different clinical scenarios. J Intern Med 244:217–226CrossRefPubMed
62.
63.
Marwaha RK, Bansal D, Trehan A, Garewal G, Marwaha N (2003) Congenital dyserythropoietic anemia: clinical and hematological profile. Indian Pediatr 40:551–555PubMed
64.
McBride JA, Wilson WE, Baillie N (1971) Congenital dyserythropoietic anaemia—type IV (abstract). Blood 38:837
65.
McCluggage WG, Hull D, Mayne E, Bharucha H, Wickramasinghe SN, Bharucha H (1996) Malignant lymphoma in congenital dyserythropoietic anemia type III. J Clin Pathol 49:509–602
66.
Modell B (1977) Total management of thalassemia major. Arch Dis Child 52:489–500PubMed
67.
Nichols KE, Crispino JD, Poncz M, White JG, Orkin SH, Maris JM, Weiss MJ (2000) Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet 24:266–270CrossRefPubMed
68.
Olivieri NF (1994) Survival in medically treated patients with homozygous β-thalassemia. N Engl J Med 331:574–578CrossRefPubMed
69.
Perrotta S, del Giudice EM, Carbone R, Servedio V, Schettini F Jr, Nobili B, Iolascon A (2000) Gilbert’s syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type II (CDA-II). J Pediatr 136:556–559PubMed
70.
Pielage J, Stork T, Bunse I, Klambt C (2003) The Drosophila cell survival gene discs lost encodes a cytoplasmic Codanin-1-like protein, not a homolog of tight junction PDZ protein Patj. Dev Cell 5:841–851CrossRefPubMed
71.
Queisser W, Spiertz E, Jost E, Heimpel H (1971) Proliferation disturbances of erythroblasts in congenital dyserythropoietic anemia type I and II. Acta Haematol 45:65–76PubMed
72.
Remacha AF, Badell I, Pujol-Moix N, Parra J, Muniz-Diaz E, Ginovart G, Sarda MP, Hernandez A, Moliner E, Torrent M (2002) Hydrops fetalis-associated congenital dyserythropoietic anemia treated with intrauterine transfusions and bone marrow transplantation. Blood 100:356–358CrossRefPubMed
73.
Rochant H, Gerbal A (1976) Polyagglutinabilité due à l’antigène Hempas. Rev Fr Transfus Immunohematol 19:239–245PubMed
74.
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 24:503–506CrossRefPubMed
75.
Sabry MA, Zaki M, al Awadi SA, al Saleh Q, Mattar MS (1997) Non-haematological traits associated with congenital dyserythropoietic anaemia type 1: a new entity emerging. Clin Dysmorphol 6:205–212PubMed
76.
Sandstroem H, Wahlin A (2000) Congenital dyserythropoietic anemia type III. Haematologica 85:753–757PubMed
77.
Sandstroem H, Wahlin A, Eriksson M, Bergstrom I, Wickramasinghe SN (1994) Intravascular haemolysis and increased prevalence of myeloma and monoclonal gammopathy in congenital dyserythropoietic anaemia, type III. Eur J Haematol 52:42–46PubMed
78.
Schatanek W, Hufnagl HD, Meiser RJ, Berberich R (1972) Kongenitale dyserythropoetische Anämie mit Eisenspeicherkrankheit. Muench Med Wochenschr 114:1933–1936
79.
Schmidt U, Richter HJ, Samandari S (1987) Atypische kongenitale dyserythropoietische Anämie. Schweiz Med Wochenschr 117:1776–1780PubMed
80.
Seip M, Skrede S, Bjerve K, et al. (1982) A case of variant congenital dyserythropoietic anemia revisited. Scand J Haematol 28:278–280PubMed
81.
Shalev H, Kapleushnik Y, Haeskelzon L, Degani O, Kransnov T, Sphilberg O, Moser A, Yaniv I, Tamary H (2002) Clinical and laboratory manifestations of congenital dyserythropoietic anemia type I in young adults. Eur J Haematol 68:170–174CrossRefPubMed
82.
Shukry-Schulz S, Lawitschka A, Matthes S, Ebetsberger G, Heimpel H, Gadner H (2000) Congenital dyserythropoietic anemia—can peripheral stem cell transplantation be a therapeutic approach? Report of two cases (abstract). Hematol J 1 [Suppl 1]:44
83.
Smithson WA, Perrault J (1982) Use of subcutaneous deferoxamine in a child with hemochromatosis associated with congenital dyserythropoietic anemia, type I. Mayo Clin Proc 57:322–325PubMed
84.
Soysal T, Akun E, Ozaras R, Aki H, Ozturk M, Tuzuner N (2000) Congenital dyserythropoietic anemia type I with ringed sideroblasts. Haematologica (Budapest) 30:45–49
85.
Tamary H, Shalev H, Luria D, Shaft D, Zoldan M, Shalmon L, Gruinspan A, Stark B, Chaison M, Shinar E, Resnitzky P, Zaizov R (1996) Clinical features and studies of erythropoiesis in Israeli Bedouins with congenital dyserythropoietic anemia type I. Blood 87:1763–1770PubMed
86.
Tamary H, Shalmon L, Shalev H, Shaft D, Zoldan M, Resnitzky P, Korostishevky M, Zaizov R (1996) Localization of the gene for congenital dyserythropoietic anemia type I to chromosome 15q15.1.3 (abstract). Blood 88 [Suppl 1]:144
87.
Tamary H, Shalmon L, Shalev H, Halil A, Dobrushin D, Ashkenazi N, Zoldan M, Resnitzky P, Korostishevsky M, Bonne Tamir B, Zaizov R (1998) 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 62:1062–1069CrossRefPubMed
88.
Tamary H, Shalev H, Pinsk V, Zoldan M, Zaizov R (1999) No response to recombinant human erythropoietin therapy in patients with congenital dyserythropoietic anemia type I (abstract). Pediatr Hematol Oncol 16:165–168CrossRefPubMed
89.
Van Steenbergen W, Matthijs G, Roskams T, Fevery J (2002) 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 57:79–84PubMed
90.
Verwilghen RL (1976) Congenital dyserythropoietic anemia type II (Hempas). In: Porter R, Fitzsimons DW (eds) Congenital disorders of erythropoiesis. Ciba foundation symposium new series, 37. Elsevier, Amsterdam, pp 151–166
91.
Wendt F, Heimpel H (1967) Kongenitale dyserythropoetische Anämie bei einem eineiigen Zwillingspaar. Med Klinik 62:172–177
92.
Wickramasinghe SN (1998) Congenital dyserythropoietic anaemias: clinical features, haematological morphology and new biochemical data. Blood Rev 12:178–200CrossRefPubMed
93.
Wickramasinghe SN, Pippard MJ (1986) 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 39:881–890PubMed
94.
Wickramasinghe SN, Hasan R, Smythe J (1997) Reduced interferon-alpha production by Epstein-Barr virus transformed B-lymphoblastoid cell lines and lectin-stimulated lymphocytes in congenital dyserythropoietic anaemia type I. Br J Haematol 98:295–298CrossRefPubMed
95.
Wickramasinghe SN, Thein SL, Srichairatanakool S, Porter JB (1999) Determinants of iron status and bilirubin levels in congenital dyserythropoietic anaemia type I. Br J Haematol 107:522–525CrossRefPubMed
96.
Wolff JA, Von Hofe H (1951) Familial erythroid multinuclearity. Blood 6:1274–1283PubMed
97.
Wong KY, Hug G, Lampkin BC (1972) Congenital dyserythropoetic anemia type II: ultrastructural and radioautographic studies of blood and bone marrow. Blood 39:23–30PubMed
98.
Zdebska E, Anselstetter V, Pacuszka T, Krauze R, Chelstowska A, Heimpel H, Koscielak J (1987) Glycolipids and glycopeptides of red cell membranes in congenital dyserthropoetic anemia type II (CDA II). Br J Haematol 66:385–391PubMed
99.
Zdebska E, Mendek-Czajkowska E, Ploski R, Wozniewicz B, Koscielak J (2002) Heterozygosity of CDAN II (HEMPAS) gene may be detected by the analysis of erythrocyte membrane glycoconjugates from healthy carriers. Haematologica 87:126–130PubMed
Metadata
Title
Congenital dyserythropoietic anemias: epidemiology, clinical significance, and progress in understanding their pathogenesis
Author
Hermann Heimpel
Publication date
01-10-2004
Publisher
Springer-Verlag
Published in
Annals of Hematology / Issue 10/2004
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-004-0892-5

Other articles of this Issue 10/2004

Annals of Hematology 10/2004 Go to the issue

Letter to the Editor

Myelodysplasia masquerading as parvovirus-related red cell aplasia with giant pronormoblasts

Original Article

Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in 2501 ethnic Danes

Letter to the Editor

Complete regression of primary gastric plasmacytoma following Helicobacter pylori eradication

Letter to the Editor

Successful treatment of hematological and extramedullary relapse of MLL-positive acute lymphoblastic leukemia after bone marrow transplantation using donor leukocyte infusion

Original Article

Rituximab and alemtuzumab induce a nonclassic, caspase-independent apoptotic pathway in B-lymphoid cell lines and in chronic lymphocytic leukemia cells

Rapid Communication

Carrier detection in severe von Willebrand’s disease
Live Webinar | 27-06-2024 | 18:00 (CEST)

Keynote webinar | Spotlight on medication adherence

Reserve your place

Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.

Prof. Kevin Dolgin
Prof. Florian Limbourg
Prof. Anoop Chauhan
Developed by: Springer Medicine
Obesity Clinical Trial Summary

At a glance: The STEP trials

Read more

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine

Highlights from the ACC 2024 Congress

Year in Review: Pediatric cardiology

Pediatric Cardiology Video

Watch Dr. Anne Marie Valente present the last year's highlights in pediatric and congenital heart disease in the official ACC.24 Year in Review session.

Year in Review: Pulmonary vascular disease

Cardiopulmonary Comorbidity Video

The last year's highlights in pulmonary vascular disease are presented by Dr. Jane Leopold in this official video from ACC.24.

Year in Review: Valvular heart disease

Valvular Heart Disease Video

Watch Prof. William Zoghbi present the last year's highlights in valvular heart disease from the official ACC.24 Year in Review session.

Year in Review: Heart failure and cardiomyopathies

Heart Failure Video

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Heart Failure Video

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.

Watch now

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

16-04-2024 Type 2 Diabetes News

Incentivised to exercise

11-04-2024 Lifestyle Modifications News

New intervention for STEMI-related cardiogenic shock

10-04-2024 Myocardial Infarction News

» View more highlights on the ACC 2024 congress hub page

Image Credits