Page 783 - Williams Hematology ( PDFDrive )
P. 783

758            Part VI:  The Erythrocyte                                                                                                                                                                   <CN>:  <CT>              PB




                 234. Fucharoen S, Winichagoon P: Hemoglobinopathies in southeast Asia: Molecular biol-    269. Brittenham GM, Griffith PM, Nienhuis AW, et al: Efficacy of deferoxamine in prevent-
                  ogy and clinical medicine. Hemoglobin 21:299, 1997.    ing complications of iron overload in patients with thalassemia major. N Engl J Med
                 235. Agarwal S, Gulati R, Singh K: Hemoglobin E-beta thalassemia in Uttar Pradesh. Indian   331:567, 1994.
                  Pediatr 34:287, 1997.                                 270. Borgna-Pignatti  C,  Rugolotto  S,  De  Stefano  P,  et  al:  Survival  and  complications  in
                 236. Khanh NC, Thu LT, Truc DB, et al: Beta-thalassemia/haemoglobin E disease in Viet-  patients with thalassemia major treated with transfusion and deferoxamine. Haemato-
                  nam. J Trop Pediatr 36:43, 1990.                       logica 89:1187, 2004.
                 237. De Silva S, Fisher CA; Members of the Sri Lanka Thalassaemia Study, et al: Thalas-    271. St Pierre TG, Clark PR, Chua-Anusorn W: Measurement and mapping of liver iron
                  saemia in Sri Lanka: Implications for the future health burden of Asian populations.   concentrations using magnetic resonance imaging. Ann N Y Acad Sci 1054:379, 2005.
                  Lancet 355:786, 2000.                                 272. Pennell DJ: T2* magnetic resonance and myocardial iron in thalassemia. Ann N Y Acad
                 238. Olivieri NF, Muraca GM, O’Donnell A, et al: Studies in haemoglobin E beta-thalas-  Sci 1054:373, 2005.
                  saemia. Br J Haematol 141:388, 2008.                  273. Lucarelli G, Giardini C, Baronciani D: Bone marrow transplantation in beta-thalas-
                 239. Premawardhena A, Fisher CA, Olivieri NF, et al: Haemoglobin E beta thalassaemia in   semia. Semin Hematol 32:297, 1995.
                  Sri Lanka. Lancet 366:1467, 2005.                     274. Lucarelli G, Giardini C, Baronciani D: Bone marrow transplantation in thalassemia.
                 240. Fisher CA, Premawardhena A, De Silva S, et al: The molecular basis for the thalas-  Semin Hematol 32:297, Review, 1995.
                  saemias in Sri Lanka. Br J Haematol 121:1, 2003.      275. Di Bartolomeo P, Di Girolamo G, Olioso P, et al: The Pescara experience of allogenic bone
                 241. Sonakul D, Suwanagool P, Sirivaidyapong P, Fucharoen S: Distribution of pulmonary   marrow transplantation in thalassemia. Bone Marrow Transplant 19(Suppl 2):48, 1997.
                  thromboembolic lesions in thalassemic patients, in Thalassemia: Pathophysiology and     276. Argiolu F, Sanna MA, Addari MC, et al: Bone marrow transplantation in thalassemia:
                  Management, Part A, edited by Fucharoen S, Rowley PT, Paul NW, p 375. Alan R. Liss,   The experience of Cagliari. Bone Marrow Transplant 19(Suppl 2):65, 1997.
                  New York, 1988.                                       277. Gaziev D, Polchi P, Galimberti M, et al: Graft-versus-host disease following bone mar-
                 242. Kattamis C, Metaxotou-Mavromati A, Wood WG, et al: The heterogeneity of normal   row transplantation for thalassemia: An analysis of incidence and risk factors. Trans-
                  Hb A2-beta thalassaemia in Greece. Br J Haematol 42: 109, 1979.  plantation 63:854, 1997.
                 243. Schwartz E: The silent carrier of beta thalassemia. N Engl J Med 281:1327, 1969.    278. Lucarelli G, Isgro A, Sodani P, Gaziev J: Hematopoietic stem cell transplantation in
                 244. Bianco I, Graziani B, Carboni C: Genetic patterns in thalassemia inter-media (constitu-  thalassemia and sickle cell anemia. Cold Spring Harb Perspect Med 2:a011825, 2012.
                  tional microcytic anemia): Familial, hematologic and biosynthetic studies. Hum Hered     279. Olivieri NF, Weatherall DJ: The therapeutic reactivation of fetal haemoglobin. Hum Mol
                  27:257, 1977.                                          Genet 7:1655, 1998.
                 245. Pirastu M, Ristaldi MS, Loudianos G, et al: Molecular analysis of atypical beta-thalas-    280. Swank RA, Stamatoyannopoulos G: Fetal gene reactivation. Curr Opin Genet Dev 8:366,
                  semia heterozygotes. Ann N Y Acad Sci 612:90, 1990.    1998.
                 246. Olds RJ, Sura T, Jackson B, et al: A novel delta 0 mutation in cis with Hb Knossos: A     281. Weatherall DJ: Pharmacological treatment of monogenic disease. Pharmacogenomics J
                  study of different interactions in three Egyptian families. Br J Haematol 78:430, 1991.  3:264, 2003.
                 248. Schokker RC, Went LN, Bok J: A new genetic variant of beta-thalassaemia. Nature     282. Quek L, Thein SL: Molecular therapies in beta-thalassaemia. Br J Haematol 136:353,
                  209:44, 1966.                                          2007.
                 248. Ohta Y, Yamaoka K, Sumida I, et al: Homozygous delta-thalassemia first discovered in     283. Olivieri NF, Rees DC, Ginder GD, et al: Treatment of thalassaemia major with phenyl-
                  Japanese family with hereditary persistence of fetal hemoglobin. Blood 37:706, 1971.  butyrate and hydroxyurea. Lancet 350:491, 1997.
                 249. Vella F, Wells RMC, Ager JAM: A haemoglobinopathy involving haemoglobin H and a     284. Sadelain M: Genetic treatment of the haemoglobinopathies: Recombinations and new
                  new (Q) haemoglobin. Br J Haematol 1:752, 1958.        combinations. Br J Haematol 98:248, 1997.
                 250. Lie-Injo LE, Pillay RP, Thuraisingham V: Further cases of Hb-Q-H disease (Hb Q-al-    285. Dominski Z, Kole R: Restoration of correct splicing in thalassemic pre-mRNA by anti-
                  pha-thalassemia). Blood 28:830, 1966.                  sense oligonucleotides. Proc Natl Acad Sci U S A 90:8673, 1993.
                 251. Milner PF, Huisman THJ: Studies on the proportion and synthesis of haemoglobin G     286. Lan N, Howrey RP, Lee S-W, et al: Ribozyme-mediated repair of sickle beta-globin
                  Philadelphia in red cells of heterozygotes, a homozygote, and a heterozygote for both   mRNAs in erythrocyte precursors. Science 280:1593, 1998.
                  haemoglobin G and alpha thalassaemia. Br J Haematol 34:207, 1976.    287. Rivella S, Sadelain M: Therapeutic globin gene delivery using lentiviral vectors. Curr
                 252. Rieder RF, Woodbury DH, Rucknagel DL: The interaction of alpha-thalassaemia and   Opin Mol Ther 4:505, 2002.
                  haemoglobin G Philadelphia. Br J Haematol 32:159, 1976.    288. Persons DA, Nienhuis AW: Gene therapy for the hemoglobin disorders. Curr Hematol
                 253. Pich P, Saglio G, Camaschella C, et al: Interaction between Hb Hasharon and alpha   Rep 2:348, 2003.
                  thalassemia: An approach to the problem of the number of human alpha loci. Blood     289. Nienhuis AW, Persons DA: Development of gene therapy for thalassemia. Cold Spring
                  51:339, 1978.                                          Harb Perspect Med 2:a011833, 2012.
                 254. Higgs DR, Aldridge BE, Lamb J, et al: The interaction of alpha-thalassemia and     290. WHO Working Group: Hereditary anemias: Genetic basis, clinical features, diagnosis
                  homozygous sickle cell disease. N Engl J Med 306:1441, 1982.  and treatment. Bull World Health Organ 60:543, 1982.
                 255. Embury SH, Dozy AM, Miller J, et al: Concurrent sickle-cell anemia and alpha-thalas-    291. Stamatoyannopoulos G: Problems of screening and counseling in the hemoglobinopa-
                  semia. N Engl J Med 306:270, 1982.                     thies, in Proceedings of the IV International Conference on Birth Defects, p 268. Exerpta
                 256. Olivieri N, Weatherall DJ: Clinical aspects of  β thalassemia and related disorders,   Medica, Vienna, 1974.
                  in Disorders of Hemoglobin, 2nd ed, edited by Steinberg MH, Forget BG, Higgs DR,     292. Alter BP: Antenatal diagnosis: Summary of results. Ann N Y Acad Sci 612:237, 1990.
                  Weatherall DJ, p 357. Cambridge University Press, Cambridge, UK, 2009.    293. Kazazian HH, Phillips JAI, Boehm CD, et al: Prenatal diagnosis of beta-thalassemia
                 257. Cazzola M, Borgna-Pignatti C, Locatelli F, et al: A moderate transfusion regimen may   by amniocentesis: Linkage analysis of multiple polymorphic restriction endonuclease
                  reduce iron loading in beta-thalassemia major without producing excessive expansion   sites. Blood 56:926, 1980.
                  of erythropoiesis. Transfusion 37:135, 1997.          294. Old JM, Ward RH, Petrou M, et al: First trimester diagnosis for haemoglobinopathies:
                 258. Propper RD, Cooper B, Rufo RR, et al: Continuous subcutaneous administration of   Three cases. Lancet 2:1413, 1982.
                  deferoxamine in patients with iron overload. N Engl J Med 297:418, 1977.    295. Old JM, Fitches A, Heath C, et al: First trimester fetal diagnosis for haemoglobinopa-
                 259. Pippard MJ, Callender ST, Letsky EA, Weatherall DJ: Prevention of iron loading in   thies: Report on 200 cases. Lancet 2:763, 1986.
                  transfusion-dependent thalassaemia. Lancet 1:1178, 1978.    296. Cao A, Galanello R, Rosatelli MC: Prenatal diagnosis and screening of the haemoglo-
                 260. Pippard MJ, Callender ST, Weatherall DJ: Intensive iron-chelation therapy with desfer-  binopathies. Clin Haematol 11:215, 1998.
                  rioxamine in iron loading patients. Clin Sci Mol Med 54:99, 1978.    297. Modell B, Petrou M, Layton M, et al: Audit of prenatal diagnosis for haemoglobin dis-
                 261. Nienhuis AW: Safety of intensive chelation therapy. N Engl J Med 296:114, 1977.  orders in the United Kingdom: The first 20 years. BMJ 315:779, 1997.
                 262. Olivieri  NF,  Bunic  JR,  Chew  E,  et  al:  Visual  and  auditory  neurotoxicity  in  patients     298. Cheung MC, Goldberg JD, Kan YW: Prenatal diagnosis of sickle cell anemia and thalas-
                  receiving subcutaneous deferoxamine infusions. N Engl J Med 314:869, 1986.  semia by analysis of fetal cells in maternal blood. Nat Genet 14:264, 1996.
                 263. Porter JB, Jawson MS, Huehns ER, et al: Desferrioxamine ototoxicity: Evaluation of risk     299. Hung EC, Chiu RW, Lo YM: Detection of circulating fetal nucleic acids: A review of
                  factors in thalassaemia patients and guidelines for safe dosage. Br J Haematol 73:403,   methods and applications. J Clin Pathol 62:308, 2009.
                  1989.                                                 300. Kuliev A, Rechitsky S, Verlinsky O, et al: Preimplantation diagnosis of thalassemias. J
                 264. Olivieri NF, Basran RK, Talbot AL, et al: Abnormal growth in thalassemia major asso-  Assist Reprod Genet 15:219, 1998.
                  ciated with deferoxamine-induced destruction of spinal cartilage and compromise of     301. Kuliev A, Rechitsky S, Verlinsky O, et al: Birth of healthy children after preimplantation
                  sitting height. Blood 86:482a, 1995.                   diagnosis of thalassemia. J Assist Reprod Genet 16:201, 1999.
                 265. Porter JB: Practical management of iron overload. Br J Haematol 115:239, 2001.    302. Cao  A,  Kan  YW:  The  prevention  of  thalassemia.  Cold Spring Harb Perspect Med
                 266. Nisbet-Brown E, Olivieri NF, Giardina PJ, et al: Effectiveness and safety of ICL670 in   3:a011775, 2013.
                  iron-loaded patients with thalassaemia: A randomized, double-blind, placebo-con-    303. Weatherall DJ, Akinyanju O, Fucharoen S, et al: Inherited disorders of hemoglobin,
                  trolled dose-escalation trial. Lancet 361:1597, 2003.  in Disease Control Priorities in Developing Countries, 2nd ed, edited by Jamison DT,
                 267. Olivieri NF, Brittenham GM: Management of the thalassemias. Cold Spring Harb Per-  Breman JG, Measham AR, Alleyne G, Claeson M, Evans DB, Jha P, Mills A, Musgrove
                  spect Med 3:a011767, 2013.                             P, p 663. Oxford University Press and the World Bank, New York, 2006.
                 268. Olivieri NF, Nathan DG, MacMillan JH, et al: Survival in medically treated patients     304. A database of human hemoglobin variants and thalassemias. http://globin.bx.psu.edu/
                  with homozygous beta-thalassemia. N Engl J Med 331:574, 1994.  hbvar/









          Kaushansky_chapter 48_p0725-0758.indd   758                                                                   9/18/15   2:59 PM
   778   779   780   781   782   783   784   785   786   787   788