Page 676 - Hematology_ Basic Principles and Practice ( PDFDrive )

570.e8 Part V Red Blood Cells

355. Ley TJ: The pharmacology of hemoglobin switching: of mice and men. 380. Lettre G, Sankaran VG, Bezerra MA, et al: DNA polymorphisms at
Blood 77:1146, 1991. the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal
356. Olivieri NF: Reactivation of fetal hemoglobin in patients with beta- hemoglobin levels and pain crises in sickle cell disease. Proc Natl Acad
thalassemia. Semin Hematol 33:24, 1996. Sci USA 105:11869, 2008.
357. Stamatoyannopoulos G, Veith R, al-Khatti A, et al: Induction of fetal 381. Sedgewick AE, Timofeev N, Sebastiani P, et al: BCL11A is a major
hemoglobin by cell-cycle-specific drugs and recombinant erythropoi- HbF quantitative trait locus in three different populations with beta-
etin. Am J Pediatr Hematol Oncol 12:21, 1990. hemoglobinopathies. Blood Cells Mol Dis 41:255, 2008.
358. Olivieri NF, Rees DC, Ginder GD, et al: Treatment of thalassaemia 382. Galanello R, Sanna S, Perseu L, et al: Amelioration of Sardinian beta0
major with phenylbutyrate and hydroxyurea. Lancet 350:491, 1997. thalassemia by genetic modifiers. Blood 114:3935, 2009.
359. Zeng YT, Huang SZ, Ren ZR, et al: Hydroxyurea therapy in beta- 383. Solovieff N, Milton JN, Hartley SW, et al: Fetal hemoglobin in sickle
thalassaemia intermedia: improvement in haematological parameters cell anemia: genome-wide association studies suggest a regulatory region
due to enhanced beta-globin synthesis. Br J Haematol 90:557, 1995. in the 5′ olfactory receptor gene cluster. Blood 115:1815, 2010.
360. Fucharoen S, Siritanaratkul N, Winichagoon P, et al: Hydroxyurea 384. Nuinoon M, Makarasara W, Mushiroda T, et al: A genome-wide asso-
increases hemoglobin F levels and improves the effectiveness of erythro- ciation identified the common genetic variants influence disease severity
poiesis in beta-thalassemia/hemoglobin E disease. Blood 87:887, 1996. in beta0-thalassemia/hemoglobin E. Hum Genet 127:303, 2010.
361. Hajjar FM, Pearson HA: Pharmacologic treatment of thalassemia 385. Close J, Game L, Clark B, et al: Genome annotation of a 1.5 Mb region
intermedia with hydroxyurea. J Pediatr 125:490, 1994. of human chromosome 6q23 encompassing a quantitative trait locus
362. Voskaridou E, Kalotychou V, Loukopoulos D: Clinical and laboratory for fetal hemoglobin expression in adults. BMC Genomics 5:33, 2004.
effects of long-term administration of hydroxyurea to patients with 386. Sankaran VG, Menne TF, Xu J, et al: Human fetal hemoglobin expres-
sickle-cell/beta-thalassaemia. Br J Haematol 89:479, 1995. sion is regulated by the developmental stage-specific repressor BCL11A.
363. Loukopoulos D, Voskaridou E, Stamoulakatou A, et al: Hydroxyurea Science 322:1839, 2008.
therapy in thalassemia. Ann N Y Acad Sci 850:120, 1998. 387. Sankaran VG, Xu J, Ragoczy T, et al: Developmental and species-
364. Hoppe C, Vichinsky E, Lewis B, et al: Hydroxyurea and sodium phen- divergent globin switching are driven by BCL11A. Nature 460:1093,
ylbutyrate therapy in thalassemia intermedia. Am J Hematol 62:221, 2009.
1999. 388. Xu J, Peng C, Sankaran VG, et al: Correction of sickle cell disease in
365. de Paula EV, Lima CS, Arruda VR, et al: Long-term hydroxyurea adult mice by interference with fetal hemoglobin silencing. Science
therapy in beta-thalassaemia patients. Eur J Haematol 70:151, 2003. 334:993, 2011.
366. Steinberg MH, Rodgers GP: Pharmacologic modulation of fetal hemo- 389. Bank A: Regulation of human fetal hemoglobin: new players, new
globin. Medicine (Baltimore) 80:328, 2001. complexities. Blood 107:435, 2006.
367. Cario H, Wegener M, Debatin KM, et al: Treatment with hydroxyurea 390. Chakalova L, Osborne CS, Dai YF, et al: The Corfu deltabeta thalas-
in thalassemia intermedia with paravertebral pseudotumors of extra- semia deletion disrupts gamma-globin gene silencing and reveals post-
medullary hematopoiesis. Ann Hematol 81:478, 2002. transcriptional regulation of HbF expression. Blood 105:2154, 2005.
368. Olivieri NF, Freedman MH, Perrine SP, et al: Trial of recombinant 391. Xu J, Sankaran VG, Ni M, et al: Transcriptional silencing of γ-globin by
human erythropoietin: three patients with thalassemia intermedia. BCL11A involves long-range interactions and cooperation with SOX6.
Blood 80:3258, 1992. Genes Dev 24:783, 2010.
369. Rachmilewitz EA, Aker M: The role of recombinant human erythro- 392. Jawaid K, Wahlberg K, Thein SL, et al: Binding patterns of BCL11A in
poietin in the treatment of thalassemia. Ann N Y Acad Sci 850:129, the globin and GATA1 loci and characterization of the BCL11A fetal
1998. hemoglobin locus. Blood Cells Mol Dis 45:140, 2010.
370. Rachmilewitz EA, Aker M, Perry D, et al: Sustained increase in hae- 393. Miller IJ, Bieker JJ: A novel, erythroid cell-specific murine transcription
moglobin and RBC following long-term administration of recombinant factor that binds to the CACCC element and is related to the Kruppel
human erythropoietin to patients with homozygous beta-thalassaemia. family of nuclear proteins. Mol Cell Biol 13:2776, 1993.
Br J Haematol 90:341, 1995. 394. Donze D, Townes TM, Bieker JJ: Role of erythroid Kruppel-like
371. Nisli G, Kavakli K, Aydinok Y, et al: Recombinant erythropoietin trial factor in human gamma- to beta-globin gene switching. J Biol Chem
in children with transfusion-dependent homozygous beta-thalassemia. 270:1955, 1995.
Acta Haematol 98:199, 1997. 395. Borg J, Papadopoulos P, Georgitsi M, et al: Haploinsufficiency for the
372. Bourantas K, Economou G, Georgiou J: Administration of high doses erythroid transcription factor KLF1 causes hereditary persistence of
of recombinant human erythropoietin to patients with beta-thalassemia fetal hemoglobin. Nat Genet 42:801, 2010.
intermedia: a preliminary trial. Eur J Haematol 58:22, 1997. 396. Zhou D, Liu K, Sun CW, et al: KLF1 regulates BCL11A expres-
373. Makis AC, Chaliasos N, Hatzimichael EC, et al: Recombinant human sion and gamma- to beta-globin gene switching. Nat Genet 42:742,
erythropoietin therapy in a transfusion-dependent beta-thalassemia 2010.
major patient. Ann Hematol 80:492, 2001. 397. Orkin SH, Kazazian HH, Jr, Antonarakis SE, et al: Linkage of beta-
374. Saunthararajah Y, Hillery CA, Lavelle D, et al: Effects of 5-aza- thalassaemia mutations and beta-globin gene polymorphisms with
2′-deoxycytidine on fetal hemoglobin levels, red cell adhesion, and DNA polymorphisms in human beta-globin gene cluster. Nature
hematopoietic differentiation in patients with sickle cell disease. Blood 296:627, 1982.
102:3865, 2003. 398. Gilman JG, Manca L, Frogheri L, et al: Mild beta+(-87)-thalassemia
375. DeSimone J, Koshy M, Dorn L, et al: Maintenance of elevated fetal CACCC box mutation is associated with elevated fetal hemoglobin
hemoglobin levels by decitabine during dose interval treatment of sickle expression in cis. Am J Hematol 45:265, 1994.
cell anemia. Blood 99:3905, 2002. 399. Liu D, Zhang X, Yu L, et al: KLF1 mutations are relatively more
376. Sankaran VG, Xu J, Orkin SH: Advances in the understanding of common in a thalassemia endemic region and ameliorate the severity
haemoglobin switching. Br J Haematol 149:181, 2010. of β-thalassemia. Blood 124(5):803–811, 2014.
377. Sankaran VG: Targeted therapeutic strategies for fetal hemoglobin 400. Thein SL, Menzel S, Peng X, et al: Intergenic variants of HBS1L-MYB
induction. Hematology Am Soc Hematol Educ Program 459:2011, are responsible for a major quantitative trait locus on chromosome 6q23
2011. influencing fetal hemoglobin levels in adults. Proc Natl Acad Sci USA
378. Menzel S, Garner C, Gut I, et al: A QTL influencing F cell production 104:11346, 2007.
maps to a gene encoding a zinc-finger protein on chromosome 2p15. 401. Wahlberg K, Jiang J, Rooks H, et al: The HBS1L-MYB intergenic
Nat Genet 39:1197, 2007. interval associated with elevated HbF levels shows characteristics
379. Uda M, Galanello R, Sanna S, et al: Genome-wide association study of a distal regulatory region in erythroid cells. Blood 114:1254,
shows BCL11A associated with persistent fetal hemoglobin and ame- 2009.
lioration of the phenotype of beta-thalassemia. Proc Natl Acad Sci USA 402. Jiang J, Best S, Menzel S, et al: cMYB is involved in the regulation of
105:1620, 2008. fetal hemoglobin production in adults. Blood 108:1077, 2006.