Page 669 - Hematology_ Basic Principles and Practice ( PDFDrive )

Chapter 40 Thalassemia Syndromes 570.e1

REFERENCES 27. Spritz RA, Jagadeeswaran P, Choudary PV, et al: Base substitution in
an intervening sequence of a beta +-thalassemic human globin gene.
1. Weatherall DJ, Clegg JB, editors: The thalassaemia syndromes, ed 4, Proc Natl Acad Sci USA 78:2455, 1981.
Oxford, 2001, Blackwell Scientific. 28. Antonarakis SE, Kazazian HH, Jr, Orkin SH: DNA polymorphism and
2. Steinberg MH, Forget BG, Higgs DR, et al, editors: Disorders of molecular pathology of the human globin gene clusters. Hum Genet
hemoglobin, New York, 2001, Cambridge University Press. 69:1, 1985.
3. Cooley T, Lee P: A series of cases of splenomegaly in children with 29. Orkin SH, Goff SC: Nonsense and frameshift mutations in beta
anemia and peculiar bone changes. Trans Am Pediatr 37:29, 1925. 0-thalassemia detected in cloned beta-globin genes. J Biol Chem
4. Cooley T, Witwer E, Lee P: Anemia in children with splenomegaly and 256:9782, 1981.
peculiar changes in bones: report of cases. Am J Dis Child 34:347, 1927. 30. Van der Ploeg LH, Konings A, Oort M, et al: gamma-beta-Thalassaemia
5. Whipple G, Bradford W: Mediterranean disease-thalassemia (erythro- studies showing that deletion of the gamma- and delta-genes influences
blastic anemia of Cooley): associated pigment abnormalities simulating beta-globin gene expression in man. Nature 283:637, 1980.
hemochromatosis. J Pediatr 9:279, 1932. 31. Li Q, Peterson KR, Fang X, et al: Locus control regions. Blood 100:3077,
6. Adams JG, 3rd, Coleman MB: Structural hemoglobin variants that 2002.
produce the phenotype of thalassemia. Semin Hematol 27:229, 1990. 32. Huang S, Wong C, Antonarakis SE, et al: The same “TATA” box
7. Barrai I, Rosito A, Cappellozza G, et al: Beta-thalassemia in the Po beta-thalassemia mutation in Chinese and US blacks: another example
Delta: selection, geography, and population structure. Am J Hum Genet of independent origins of mutation. Hum Genet 74:162, 1986.
36:1121, 1984. 33. Gilman JG, Huisman TH: DNA sequence variation associated with
8. Livingston F, editor: Abnormal hemoglobins in human populations, elevated fetal G gamma globin production. Blood 66:783, 1985.
Chicago, 1967, Aldine. 34. Ranjbaran R, Okhovat MA, Mobarhanfard A, et al: Relationship
9. Malamos B, Fessas P, Stamatoyannopoulos G: Types of thalassaemia- between AHSP gene expression, β/α globin mRNA ratio, and clinical
trait carriers as revealed by a study of their incidence in Greece. Br J severity of the β-thalassemia patients. Ann Clin Lab Sci 44(2):189–193,
Haematol 8:5, 1962. 2014.
10. Pearson HA, Guiliotis DK, O’Brien RT, et al: Thalassemia in Greek 35. Shinar E, Rachmilewitz EA: Oxidative denaturation of red blood cells
Americans. J Pediatr 86:917, 1975. in thalassemia. Semin Hematol 27:70, 1990.
11. Nagel RL, Roth EF, Jr: Malaria and red cell genetic defects. Blood 36. Finch CA, Sturgeon P: Erythrokinetics in Cooley’s anemia. Blood 12:64,
74:1213, 1989. 1957.
12. Kanavakis E, Wainscoat JS, Wood WG, et al: The interaction of 37. Pootrakul P, Sirankapracha P, Hemsorach S, et al: A correlation of
alpha thalassaemia with heterozygous beta thalassaemia. Br J Haematol erythrokinetics, ineffective erythropoiesis, and erythroid precursor
52:465, 1982. apoptosis in Thai patients with thalassemia. Blood 96(7):2606–2612,
13. Rosatelli C, Falchi AM, Scalas MT, et al: Hematological phenotype of 2000.
the double heterozygous state for alpha and beta thalassemia. Hemoglo- 38. Nicolas G, Viatte L, Bennoun M, et al: Hepcidin, a new iron regulatory
bin 8:25, 1984. peptide. Blood Cells Mol Dis 29:327, 2002.
14. Wainscoat JS, Kanavakis E, Wood WG, et al: Thalassaemia intermedia 39. Pak M, Lopez MA, Gabayan V, et al: Suppression of hepcidin during
in Cyprus: the interaction of alpha and beta thalassaemia. Br J Haematol anemia requires erythropoietic activity. Blood 108:3730, 2006.
53:411, 1983. 40. Origa R, Galanello R, Ganz T, et al: Liver iron concentrations and
15. Thein SL: Dominant beta thalassaemia: molecular basis and patho- urinary hepcidin in beta-thalassemia. Haematologica 92:583, 2007.
physiology. Br J Haematol 80:273, 1992. 41. Gardenghi S, Marongiu MF, Ramos P, et al: Ineffective erythropoiesis in
16. Kazazian HH, Jr, Dowling CE, Hurwitz RL, et al: Dominant beta-thalassemia is characterized by increased iron absorption mediated
thalassemia-like phenotypes associated with mutations in exon 3 of the by down-regulation of hepcidin and up-regulation of ferroportin. Blood
beta-globin gene. Blood 79:3014, 1992. 109:5027, 2007.
17. Borgna-Pignatti C, Rigon F, Merlo L, et al: Thalassemia minor, 42. Kattamis A, Papassotiriou I, Palaiologou D, et al: The effects of eryth-
the Gilbert mutation, and the risk of gallstones. Haematologica ropoetic activity and iron burden on hepcidin expression in patients
88(10):1106–1109, 2003. with thalassemia major. Haematologica 91:809, 2006.
18. Forget BG: Molecular genetics of the human globin genes. In Steinberg 43. D’Andrea A, Fasman G, Wong G, et al: Erythropoietin receptor:
MH, Forget BG, Higgs DR, et al, editors: Disorders of hemoglobin, New cloning strategy and structural features. Int J Cell Cloning 8:173,
York, 2001, Cambridge University Press, p 117. 1990.
19. Weatherall DJ: The Thalassemias. In Stamatoyannopoulos G, Majerus 44. D’Andrea AD, Lodish HF, Wong GG: Expression cloning of the
P, Perlmutter R, et al, editors: Molecular basis of blood diseases, ed 3, murine erythropoietin receptor. Cell 57:277, 1989.
Philadelphia, 2001, WB Saunders, p 183. 45. Wu H, Klingmuller U, Besmer P, et al: Interaction of the erythropoietin
20. Forget BG, Olivieri NF: Hemoglobin synthesis and the thalassemias. and stem-cell-factor receptors. Nature 377:242, 1995.
In Handin R, Lux S, Stossel T, editors: Blood: principles and practice of 46. Wu H, Liu X, Jaenisch R, et al: Generation of committed erythroid
hematology, ed 2, Philadelphia, 2003, JB Lippincott, p 1503. BFU-E and CFU-E progenitors does not require erythropoietin or the
21. Forget BG: Molecular mechanisms of beta thalassemia. In Steinberg erythropoietin receptor. Cell 83:59, 1995.
MH, Forget BG, Higgs DR, et al, editors: Disorders of hemoglobin, New 47. Li K, Menon MP, Karur VG, et al: Attenuated signaling by a
York, 2001, Cambridge University Press, p 252. phosphotyrosine-null Epo receptor form in primary erythroid progeni-
22. Kazazian HH, Jr: The thalassemia syndromes: molecular basis and tor cells. Blood 102:3147, 2003.
prenatal diagnosis in 1990. Semin Hematol 27:209, 1990. 48. Li K, Miller C, Hegde S, et al: Roles for an Epo receptor Tyr-343 Stat5
23. Patrinos GP, Giardine B, Riemer C, et al: Improvements in the HbVar pathway in proliferative co-signaling with kit. J Biol Chem 278:40702,
database of human hemoglobin variants and thalassemia mutations for 2003.
population and sequence variation studies. Nucleic Acids Res 32:D537, 49. Menon MP, Fang J, Wojchowski DM: Core erythropoietin recep-
2004. tor signals for late erythroblast development. Blood 107:2662,
24. Hardison RC, Chui DH, Giardine B, et al: HbVar: A relational data- 2006.
base of human hemoglobin variants and thalassemia mutations at the 50. Menon MP, Karur V, Bogacheva O, et al: Signals for stress erythropoi-
globin gene server. Hum Mutat 19:225, 2002. esis are integrated via an erythropoietin receptor-phosphotyrosine-343-
25. Hardison RC, Chui DH, Riemer C, et al: Databases of human Stat5 axis. J Clin Invest 116:683, 2006.
hemoglobin variants and other resources at the globin gene server. 51. von Lindern M, Zauner W, Mellitzer G, et al: The glucocorticoid recep-
Hemoglobin 25:183, 2001. tor cooperates with the erythropoietin receptor and c-Kit to enhance
26. Westaway D, Williamson R: An intron nucleotide sequence variant in a and sustain proliferation of erythroid progenitors in vitro. Blood 94:550,
cloned beta +-thalassaemia globin gene. Nucleic Acids Res 9:1777, 1981. 1999.