Page 594 - Williams Hematology ( PDFDrive )

568 Part VI: The Erythrocyte Chapter 39: The Congenital Dyserythropoietic Anemias 569

normomacrocytic component, and low or moderate reticulocyte count 25. Tamary H, Shalev H, Perez-Avraham G, et al: Elevated growth differentiation fac-
out of keeping with the degree of anemia will point to a diagnosis of tor 15 expression in patients with congenital dyserythropoietic anemia type I. Blood
112(13):5241–5244, 2008.
CDA. Indeed, CDAs are a subtype of marrow failure syndromes char- 26. Shalev H, Perez-Avraham G, Kapelushnik J, et al: High levels of soluble serum hemo-
acterized by ineffective erythropoiesis and heterogeneous, type-specific juvelin in patients with congenital dyserythropoietic anemia type I. Eur J Haematol
morphologic abnormalities in erythroid precursor cells (see Fig. 39–1). 90(1):31–36, 2013.
Thus, marrow examination is essential if family history is unrevealing. 27. Tamary H, Offret H, Dgany O, et al: Congenital dyserythropoietic anaemia, type I, in
a Caucasian patient with retinal angioid streaks (homozygous arg1042trp mutation in
The marrow, if needed, is quite different than in other types of hemolytic codanin-1). Eur J Haematol 80(3):271–274, 2008.
anemia or the thalassemias as multinuclearity of erythroblasts is not a 28. Lavabre-Bertrand T, Ramos J, Delfour C, et al: Long-term alpha interferon treatment is
feature of the latter two types of anemia. effective on anaemia and significantly reduces iron overload in congenital dyserythro-
poiesis type I. Eur J Haematol 73(5):380–383, 2004.
29. Ayas M, al-Jefri A, Baothman A, et al: Transfusion-dependent congenital dyserythro-
REFERENCES poietic anemia type I successfully treated with allogeneic stem cell transplantation.
Bone Marrow Transplant 29(8):681–682, 2002.
30. Heimpel H, Anselstetter V, Chrobak L, et al: Congenital dyserythropoietic anemia type
1. Heimpel H, Wendt F: Congenital dyserythropoietic anemia with karyorrhexis and mul- II: Epidemiology, clinical appearance, and prognosis based on long-term observation.
tinuclearity of erythroblasts. Helv Med Acta 34(2):103–115, 1968. Blood 102(13):4576–4581, 2003.
2. Iolascon A, Heimpel H, Wahlin A, et al: Congenital dyserythropoietic anemias: Molec- 31. Iolascon A, Delaunay J, Wickramasinghe SN, et al: Natural history of congenital dysery-
ular insights and diagnostic approach. Blood 122(13):2162–2166, 2013. thropoietic anemia type II. Blood 98(4):1258–1260, 2001.
3. Gulbis B, Eleftheriou A, Angastiniotis M, et al: Epidemiology of rare anaemias in 32. Remacha AF, Badell I, Pujol-Moix N, et al: Hydrops fetalis-associated congenital dys-
Europe. Adv Exp Med Biol 686:375–396, 2010. erythropoietic anemia treated with intrauterine transfusions and bone marrow trans-
4. Heimpel H, Matuschek A, Ahmed M, et al: Frequency of congenital dyserythropoietic plantation. Blood 100(1):356–358, 2002.
anemias in Europe. Eur J Haematol 85(1):20–25, 2010. 33. Braun M, Wolfl M, Wiegering V, et al: Successful treatment of an infant with CDA type
5. Iolascon A, Servedio V, Carbone R, et al: Geographic distribution of cda-ii: Did a II by intrauterine transfusions and postnatal stem cell transplantation. Pediatr Blood
founder effect operate in southern Italy? Haematologica 85(5):470–474, 2000. Cancer 61(4):743–745, 2014.
6. Russo R, Gambale A, Esposito MR, et al: Two founder mutations in the sec23b gene 34. Crookston JH, Crookston MC, Burnie KL, et al: Hereditary erythroblastic multinucle-
account for the relatively high frequency of CDA II in the Italian population. Am J arity associated with a positive acidified-serum test: A type of congenital dyserythro-
Hematol 86(9):727–732, 2011. poietic anaemia. Br J Haematol 17(1):11–26, 1969.
7. Tamary H, Shalev H, Luria D, et al: Clinical features and studies of erythropoiesis 35. Alloisio N, Texier P, Denoroy L, et al: The cisternae decorating the red blood cell mem-
in Israeli Bedouins with congenital dyserythropoietic anemia type I. Blood 87(5): brane in congenital dyserythropoietic anemia (type II) originate from the endoplasmic
1763–1770, 1996. reticulum. Blood 87(10):4433–4439, 1996.
8. Iolascon A, Esposito MR, Russo R: Clinical aspects and pathogenesis of congenital 36. Scartezzini P, Forni GL, Baldi M, et al: Decreased glycosylation of band 3 and band 4.5
dyserythropoietic anemias: From morphology to molecular approach. Haematologica glycoproteins of erythrocyte membrane in congenital dyserythropoietic anaemia type II.
97(12):1786–1794, 2012. Br J Haematol 51(4):569–576, 1982.
9. Heimpel H, Schwarz K, Ebnother M, et al: Congenital dyserythropoietic anemia type 37. Fukuda MN, Gaetani GF, Izzo P, et al: Incompletely processed N-glycans of serum gly-
I (CDA I): Molecular genetics, clinical appearance, and prognosis based on long-term coproteins in congenital dyserythropoietic anaemia type II (HEMPAS). Br J Haematol
observation. Blood 107(1):334–340, 2006. 82(4):745–752, 1992.
10. Wickramasinghe SN, Thein SL, Srichairatanakool S, et al: Determinants of iron sta- 38. De Franceschi L, Turrini F, del Giudice EM, et al: Decreased band 3 anion transport
tus and bilirubin levels in congenital dyserythropoietic anaemia type I. Br J Haematol activity and band 3 clusterization in congenital dyserythropoietic anemia type II. Exp
107(3):522–525, 1999. Hematol 26(9):869–873, 1998.
11. Wickramasinghe SN: Congenital dyserythropoietic anaemias: Clinical features, haema- 39. Schwarz K, Iolascon A, Verissimo F, et al: Mutations affecting the secretory COPII
tological morphology and new biochemical data. Blood Rev 12(3):178–200, 1998. coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet
12. Heimpel H, Kellermann K, Neuschwander N, et al: The morphological diagnosis of 41(8):936–940, 2009.
congenital dyserythropoietic anemia: Results of a quantitative analysis of peripheral 40. Fromme JC, Orci L, Schekman R: Coordination of COPII vesicle trafficking by SEC23.
blood and bone marrow cells. Haematologica 95(6):1034–1036, 2010. Trends Cell Biol 18(7):330–336, 2008.
13. Tamary H, Shalmon L, Shalev H, et al: Localization of the gene for congenital dysery- 41. Lee MC, Miller EA, Goldberg J, et al: Bi-directional protein transport between the ER
thropoietic anemia type I to a <1-cm interval on chromosome 15q15.1–15.3. Am J Hum and GOLGI. Annu Rev Cell Dev Biol 20:87–123, 2004.
Genet 62(5):1062–1069, 1998. 42. Russo R, Esposito MR, Iolascon A: Inherited hematological disorders due to defects in
14. Dgany O, Avidan N, Delaunay J, et al: Congenital dyserythropoietic anemia type I is coat protein (COP)II complex. Am J Hematol 88(2):135–140, 2013.
caused by mutations in codanin-1. Am J Hum Genet 71(6):1467–1474, 2002. 43. Jones B, Jones EL, Bonney SA, et al: Mutations in a Sar1 GTPase of COPII vesicles are
15. Noy-Lotan S, Dgany O, Lahmi R, et al: Codanin-1, the protein encoded by the gene associated with lipid absorption disorders. Nat Genet 34(1):29–31, 2003.
mutated in congenital dyserythropoietic anemia type I (cdan1), is cell cycle-regulated. 44. Boyadjiev SA, Fromme JC, Ben J, et al: Cranio-lenticulo-sutural dysplasia is caused by
Haematologica 94(5):629–637, 2009. a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.
16. Ask K, Jasencakova Z, Menard P, et al: Codanin-1, mutated in the anaemic disease Nat Genet 38(10):1192–1197, 2006.
CDAI, regulates Asf1 function in S-phase histone supply. EMBO J 31(8):2013–2023, 45. De Matteis MA, Luini A: Mendelian disorders of membrane trafficking. N Engl J Med
2012. 365(10):927–938, 2011.
17. Renella R, Roberts NA, Brown JM, et al: Codanin-1 mutations in congenital dys- 46. Iolascon A, Russo R, Esposito MR, et al: Molecular analysis of 42 patients with congen-
erythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts. Blood ital dyserythropoietic anemia type II: New mutations in the SEC23B gene and a search
117(25):6928–6938, 2011. for a genotype–phenotype relationship. Haematologica 95(5):708–715, 2010.
18. Ahmed MR, Chehal A, Zahed L, et al: Linkage and mutational analysis of the CDAN1 47. Tao J, Zhu M, Wang H, et al: SEC23B is required for the maintenance of murine profes-
gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. Blood sional secretory tissues. Proc Natl Acad Sci U S A 109(29):E2001–E2009, 2012.
107(12):4968–4969, 2006. 48. Russo R, Langella C, Esposito MR, et al: Hypomorphic mutations of SEC23B gene
19. Tamary H, Dgany O, Proust A, et al: Clinical and molecular variability in congenital account for mild phenotypes of congenital dyserythropoietic anemia type II. Blood
dyserythropoietic anaemia type I. Br J Haematol 130(4):628–634, 2005. Cells Mol Dis 51(1):17–21, 2013.
20. Babbs C, Roberts NA, Sanchez-Pulido L, et al: Homozygous mutations in a predicted 49. Fargion S, Valenti L, Fracanzani AL, et al: Hereditary hemochromatosis in a patient
endonuclease are a novel cause of congenital dyserythropoietic anemia type I. Haema- with congenital dyserythropoietic anemia. Blood 96(10):3653–3655, 2000.
tologica 98(9):1383–1387, 2013. 50. Gangarossa S, Romano V, Miraglia del Giudice E, et al: Congenital dyserythropoi-
21. Sankaran VG, Ludwig LS, Sicinska E, et al: Cyclin D3 coordinates the cell cycle during etic anemia type II associated with G6PD Seattle in a Sicilian child. Acta Haematol
differentiation to regulate erythrocyte size and number. Genes Dev 26(18):2075–2087, 93(1):36–39, 1995.
2012. 51. Casanovas G, Swinkels DW, Altamura S, et al: Growth differentiation factor 15 in
22. Li FX, Zhu JW, Hogan CJ, et al: Defective gene expression, S phase progression, and patients with congenital dyserythropoietic anaemia (CDA) type II. J Mol Med (Berl)
maturation during hematopoiesis in e2f1/e2f2 mutant mice. Mol Cell Biol 23(10): 89(8):811–816, 2011.
3607–3622, 2003. 52. Hofmann WK, Kaltwasser JP, Hoelzer D, et al: Successful treatment of iron overload
23. Parez N, Dommergues M, Zupan V, et al: Severe congenital dyserythropoietic anaemia by phlebotomies in a patient with severe congenital dyserythropoietic anemia type II.
type I: Prenatal management, transfusion support and alpha-interferon therapy. Br Blood 89(8):3068–3069, 1997.
J Haematol 110(2):420–423, 2000. 53. Perrotta S, del Giudice EM, Carbone R, et al: Gilbert’s syndrome accounts for the phe-
24. Shalev H, Moser A, Kapelushnik J, et al: Congenital dyserythropoietic anemia type I notypic variability of congenital dyserythropoietic anemia type II (CDA-II). J Pediatr
presenting as persistent pulmonary hypertension of the newborn. J Pediatr 136(4): 136(4):556–559, 2000.
553–555, 2000.

Kaushansky_chapter 39_p0563-0570.indd 569 9/17/15 6:21 PM