REFERENCES
- Delaunay J. The congenital dyserythropoietic anemias. In:Kaushanski K, Lichtman MA, Beutler E, Kipps TJ, Seligsohn U, Prchal JT, Eds. Williams Hematology, 8th ed. New York: McGraw Hill. 2010: 513–519.
- Heimpel H, Matuschek A, Ahmed M, Frequency of congenital dyserythropoietic anemias in Europe. Eur J Haematol. 2010;85(1):20–25.
- Schwarz K, Iolascon A, Verissimo F, Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet. 2009;41(8):936–940.
- Bianchi P, Fermo E, Vercellati C, Congenital dyserythropoietic anemia type II (CDA II) is caused by mutations in the SEC23B gene. Hum Mutat. 2009;30(9):1292–1298.
- Iolascon A, Russo R, Esposito MR, Genotype-phenotype relationship in forty two CDA II patients carrying mutations in the SEC23B gene. Haematologica. 2009;94(8):1049–1059.
- Wajcman H, Traeger-Synodinos J, Papassotiriou I, Unstable and thalassemic α chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia. Hemoglobin. 2008;32(4):327–329.
- Hruby MA, Mason RG, Honig GR. Unbalanced globin chain synthesis in congenital dyserythropoietic anemia. Blood. 1973;42(6):843–850.
- Weatherall DJ, Clegg JB, Knox-Macaulay HN, Bunch C, Hopkins CR, Temperley IJ. A genetically determined disorder with features both of thalassemia and congenital dyserythropoietic anaemia. Br J Haematol. 1973;24(6):681–702.
- Eldor A, Matzner Y, Kahane I, Levene C, Polliack A. Aberrant congenital dyserythropoietic anemia with negative acidified serum tests and features of thalassemia in a Kurdish family. Israel J Med Sci. 1978;14(11):1138–1143.
- Alloisio N, Jaccoud P, Dorléac E, Alterations of globin chain synthesis and of red cell membrane proteins in congenital dyserythropoietic anemia I and II. Pediatr Res. 1982;16(12):1016–1021.
- Martin G, Villegas A, González FA, A novel mutation of the α2-globin causing α+-thalassemia: Hb Plasencia [α125(H8)Leu→Arg (α2)]. Hemoglobin. 2005;29(9):113–117.
- Laemmli UK. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature. 1970;227(5259):680–685.
- Fairbanks G, Steck TL, Wallach DFH. Electrophoresis analysis of the major polypeptides of the human erythrocyte membrane. Biochemistry. 1971;10(13):2606–2617.
- Alloisio N, Texier P, Denoroy L, The cisternae decorating the red blood cell membrane in congenital dyserythropieitic anemia (type II) originate from the endoplasmic reticulum. Blood. 1996;87(10):4433–4439.
- Heimpel H, Kellermann K, Neuschwander N, Högel J, Schwarz K. The morphological diagnosis of congenital dyserythropoietic anemia : results of a quantitative analysis of peripheral blood and bone marrow cells. Haematologica. 2010;95(6):1034–1036.
- Traeger-Synodinos J, Metaxotou-Mavromati A, Kanavakis E, An α-thalassemic hemoglobinopathy; homozygosity for the Hb Agrinio α2-globin chain variant. Hemoglobin. 1998;22(3):209–215.
- Honig GR, Shamsuddin M, Zaizof R, Steinherz M, Solar I, Kirschmann C. Hemoglobin Petah Tikva (α110 Ala→Asp): a new unstable variant with α-thalassemia-like expression. Blood. 1981;57(4):705–711.
- Goossens M, Lee KY, Liebhaber SA, Kan YW. Globin structural mutant α125 Leu→Arg is a novel cause of α-thalassaemia. Nature. 1982;296(5860):864–865.
- Galacteros F, Girodon E, M'Rad A, Hb Taybe (α38 or 39 THR deleted): an α-globin defect, silent in the heterozygous state and producing severe hemolytic anemia in the homozygous state. CR Acad Sci Paris, Sciences de la Vie. 1994;317(5):437–444.
- Arnon S, Tamary H, Dgany O, Hydrops fetalis associated with homozygosity for hemoglobin Taybe (α38/39 THR deletion) in newborn triplets. Am J Hematol. 2004;76(3):263–266.
- Morlé F, Francina A, Ducrocq R, A new α chain variant Hb Sallanches [α2 104(G11)Cys→Tyr] associated with Hb H disease in one homozygous patient. Br J Haematol. 1995;91(3):608–611.
- Dash S, Harano K, Menon S. Hb Sallanches [α104(G11)Cys→Tyr, TGC→TAC (α2)]: an unstable hemoglobin variant found in an Indian child. Hemoglobin. 2006;30(3):393–396.