Albertine Donker

Chapter 6 220 REFERENCES 1. Cox TC, Bottomley SS, Wiley JS, Bawden MJ, Matthews CS, May BK. X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase. The New England journal of medicine. 1994;330(10):675-679. 2. Cotter PD, Rucknagel DL, Bishop DF. X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta- aminolevulinate synthase gene (ALAS2) in the original family described by Cooley. Blood. 1994;84(11):3915-3924. 3. Bottomley SS, Healy HM, Brandenburg MA, May BK. 5-Aminolevulinate synthase in sideroblastic anemias: mRNA and enzyme activity levels in bone marrow cells. American journal of hematology. 1992;41(2):76-83. 4. Cazzola M, May A, Bergamaschi G, Cerani P, Ferrillo S, Bishop DF. Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation. Blood. 2002;100(12):4236-4238. 5. Barton JC, Lee PL. Disparate phenotypic expression of ALAS2 R452H (nt 1407 G --> A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma. Blood cells, molecules & diseases. 2006;36(3):342-346. 6. Aivado M, Gattermann N, Rong A, et al. X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. Blood cells, molecules & diseases. 2006;37(1):40-45. 7. Cortesao E, Vidan J, Pereira J, Goncalves P, Ribeiro ML, Tamagnini G. Onset of X-linked sideroblastic anemia in the fourth decade. Haematologica. 2004;89(10):1261-1263. 8. Cazzola M, May A, Bergamaschi G, Cerani P, Rosti V, Bishop DF. Familial- skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females. Blood. 2000;96(13):4363-4365. 9. Camaschella C. Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment. Seminars in hematology. 2009;46(4):371-377. 10. May A, Bishop DF. The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia. Haematologica. 1998;83(1):56-70. 11. Cotter PD, MayA, Li L, et al. Four newmutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. Blood. 1999;93(5):1757-1769. 12. Sheftel A, Stehling O, Lill R. Iron-sulfur proteins in health and disease. Trends in endocrinology and metabolism: TEM. 2010;21(5):302-314. 13. Pippard MJ, Weatherall DJ. Iron absorption in non-transfused iron loading anaemias: prediction of risk for iron loading, and response to iron chelation treatment, in beta thalassaemia intermedia and congenital sideroblastic anaemias. Haematologia. 1984;17(1):17-24. 14. Flanagan SE, Patch AM, Ellard S. Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genet Test Mol Biomarkers. 2010;14(4):533-537. 15. Ng PC, Henikoff S. Predicting the effects of amino acid substitutions on protein function. Annual review of genomics and human genetics. 2006;7:61-80. 16. Sunyaev S, Lathe W, 3rd, Bork P. Integration of genome data and protein structures: prediction of protein folds, protein interactions and “molecular phenotypes” of single nucleotide polymorphisms. Current opinion in structural biology. 2001;11(1):125-