Modern treatment of thalassaemia intermedia

British Journal of Haematology

Volumn 138, Issue 3, 2007, Pages 291-304

  Borgna Pignatti, Caterina ^a  

^a UNIVERSITY OF FERRARA   (Italy)

Author keywords

Antioxidants; HbF reactivation; Hydroxycarbamide; Thalassaemia intermedia; Transfusion

Indexed keywords

ACETYLCYSTEINE; ALPHA TOCOPHEROL; AMOXICILLIN; ANTIOXIDANT; ARGININE BUTYRATE; ASCORBIC ACID; AZACITIDINE; BUTYRIC ACID DERIVATIVE; DEFERASIROX; DEFERIPRONE; DEFEROXAMINE; ERYTHROMYCIN; ERYTHROPOIETIN; FLAVONOID; FLAVONOID 7 HYDROXYETHYLRUTOSIDE; FOLIC ACID; GLOBIN; HEMIN; HYDROXYUREA; INDICAXANTHIN; LENTIVIRUS VECTOR; LOW MOLECULAR WEIGHT HEPARIN; PENICILLIN G; POLYPHENOL; RECOMBINANT ERYTHROPOIETIN; RUTOSIDE; SODIUM ISOBUTYRAMIDE; SODIUM PHENYLBUTYRATE; UNCLASSIFIED DRUG; UNINDEXED DRUG; ZINC;

ADD ON THERAPY; ALLOIMMUNIZATION; ANEMIA; BLOOD TRANSFUSION; CHELATION; CLINICAL TRIAL; COMBINATION CHEMOTHERAPY; DELAYED PUBERTY; DIABETES MELLITUS; DISEASE SEVERITY; DRUG MEGADOSE; GALLSTONE; GENE THERAPY; HEART DISEASE; HEMOSIDEROSIS; HUMAN; HYPERSPLENISM; HYPOGONADISM; HYPOTHYROIDISM; INTRAUTERINE GROWTH RETARDATION; LEG ULCER; LIVER CELL CARCINOMA; MONOTHERAPY; NONHUMAN; OSTEOPOROSIS; POSTOPERATIVE INFECTION; PREGNANCY; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM; PULMONARY HYPERTENSION; REVIEW; SICKLE CELL ANEMIA; SPLENECTOMY; STEM CELL TRANSPLANTATION; THALASSEMIA; THALASSEMIA INTERMEDIA; THROMBOSIS; VITAMIN SUPPLEMENTATION;

BLOOD TRANSFUSION; CHELATION THERAPY; FETAL HEMOGLOBIN; HUMANS; HYDROXYUREA; IRON CHELATING AGENTS; NUCLEIC ACID SYNTHESIS INHIBITORS; SPLENECTOMY; STEM CELL TRANSPLANTATION; THALASSEMIA;

EID: 34447135533     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2007.06654.x     Document Type: Review

References (117)

1. Aessopos, A. Farmakis, D. (2005) Pulmonary hypertension in beta-thalassemia. Annals NewYork Academy of Sciences, 1054, 342 349.
2. Aessopos, A., Savvides, P., Stamatelos, G., Rombos, J., Tassiopoulos, T., Karagiorga, M., Kaklamanis, P. Fessas, P. (1992) Pseudoxanthoma elasticum-like skin lesion and angiod lesions and angiod streaks in beta-thalassemia. American Journal of Hematology, 41, 159 164.
3. Aessopos, A., Farmakis, D., Karagiorga, M., Voskaridou, E., Loutradi, A., Hatziliami, A., Joussef, J., Rombos, J. Loukopoulos, D. (2001) Cardiac involvement in thalassemia intermedia: a multicenter study. Blood, 97, 3411 3416.
4. Aessopos, A., Farmakis, D., Deftereos, S., Tsironi, M., Polonofi, A., Moyssakis, I., Diamanti-Koudaraki, E. Papalambros, E. (2005) Cardiovascular effects of splenomegaly and splenectomy in beta-thalassemia. Annals of Hematology, 84, 353 357.
5. Aessopos, A., Kati, M., Tsironi, M., Polonifi, E. Farmakis, D. (2006) Exchange blood transfusions for the treatment of leg ulcerations in thalassemia intermedia. Haematologica, 91 (5 Suppl. ECR11.
6. Al-Khatti, A., Veith, R.W., Papayannopoulou, T., Fritsch, E.F., Goldwasser, E. Stamatoyannopoulos, G. (1987) Stimulation of fetal hemoglobin synthesis by erythropoietin in baboons. New England Journal of Medicine, 317, 415 420.
7. Amer, J. Fibach, E. (2004) Oxidative status of platelets in normal and thalassemic blood. Thrombosis and Haemostasis, 92, 1052 1059.
8. Amer, J. Fibach, E. (2005) Chronic oxidative stress reduces the respiratory burst response of neutrophils from beta-thalassemia patients. British Journal of Haematology, 129, 435 441.
9. Arcasoy, A., Canata, D., Sinav, B., Kutlay, L., Oguz, N. Sen, M. (2001) Serum zinc levels and zinc binding capacity in thalassemia. Journal of Trace Elements in Medicine and Biology, 15, 85 87.
10. Atichartakarn, V., Chuncharunee, S., Chandanamattha, P., Likittanasombat, K. Aryurachai, K. (2004) Correction of hypercoagulability and amelioration of pulmonary arterial hypertension by chronic blood transfusion in an asplenic hemoglobin E/beta-thalassemia patient. Blood, 103, 2844 2846.
11. Atweh, G.F. Loukopoulos, D. (2001) Pharmacological induction of fetal hemoglobin in sickle cell disease and beta- thalassemia. Seminars in Hematology, 38, 367 373.
12. Bank, A., Dorazio, R. Leboulch, P. (2005) A phase I/II clinical trial of the beta-globin gene therapy for beta-thalassemia. Annals of the New York Academy of Sciences, 1054, 308 316.
13. Bennett, M., Macri, C.J. Bathgate, S.L. (2005) Erythropoietin use in a Jehovah's witness with anemia and beta-thalassemia: a case report. The Journal of Reproductive Medicine, 50, 135 137.
14. Bohl, D., Bosch, A., Cardona, A., Solvetti, A. Heard, J.M. (2000) Improvement of erythropoiesis in beta-thalassemic mice by continuous erythropoietin delivery from muscle. Blood, 95, 2793 2798.
15. Borgna-Pignatti, C., De Stefano, P., Barone, F. Concia, E. (1984) Penicillin compliance in splenectomized thalassemics. European Journal of Pediatrics, 142, 83 85.
16. Borgna-Pignatti, C., Carnelli, V., Caruso, V., Dore, F., De Mattia, D., Di Palma, A., Di Gregorio, F., Romeo, M.A., Longhi, R., Mangiagli, A., Melevendi, C., Pizzarelli, G. Musumeci, S. (1998) Thromboembolic events in beta thalassemia major, an Italian multicenter study. Acta Haematologica, 99, 76 79.
17. Borgna-Pignatti, C., Rigon, F., Merlo, L., Chakrok, R., Micciolo, R., Perseu, L. Galanello, R. (2003) Thalassemia minor, the Gilbert mutation, and the risk of gallstones. Haematologica, 88, 1106 1109.
18. Borgna-Pignatti, C., Vergine, G., Lombardo, T., Cappellini, M.D., Cianciulli, P., Maggio, A., Renda, D., Lai, M.E., Mandas, A., Forni, G., Piga, A. Bisconte, M.G. (2004) Hepatocellular carcinoma in the thalassaemia syndromes. British Journal of Haematology, 124, 114 117.
19. Bosi, G., Crepaz, R., Gamberini, M.R., Fortini, M., Scarcia, S., Bonsante, E., Pitscheider, W. Vaccari, M. (2003) Left ventricular remodelling, and systolic and diastolic function in young adults with beta thalassaemia major: a Doppler echocardiographic assessment and correlation with haematological data. Heart, 89, 762 766.
20. Bourantas, K., Economou, G. Georgiou, J. (1997) Administration of high doses of recombinant human erythropoietin to patients with beta-thalassemia intermedia: a preliminary trial. European Journal of Haematology, 58, 22 25.
21. Bradai, M., Abad, M.T., Pissard, S., Lamraoui, F., Skopinski, L. de Montalembert, M. (2003) Hydroxyurea can eliminate transfusion requirements in children with severe beta-thalassemia. Blood, 102, 1529 1530.
22. Breda, L., Gardenghi, S., Guy, E., Rachmilewitz, E.A., Weizer-Stern, O., Adamsky, K., Amariglio, N., Rechavi, G., Giardina, P.J., Grady, R.W. Rivella, S. (2005) Exploring the role of hepcidin, an antimicrobial and iron regulatory peptide, in increased iron absorption in beta-thalassemia. Annals of the New York Academy of Sciences, 1054, 417 422.
23. Caglikulekci, M., Dirlik, M., Pata, C., Plasse, M., Tamer, L., Ogetman, Z. Ercan, B. (2006) Effect of N-acetylcysteine on blood and tissue lipid peroxidation in lipopolysaccharide-induced obstructive jaundice. Journal of Investigative Surgery, 19, 175 184.
24. Cao, A. (1988) Diagnosis of beta-thalassemia intermedia at presentation. Birth Defects Original Article Series, 23, 219 226.
25. Cappellini, M.D., Graziadei, G., Ciceri, L., Comino, A., Bianchi, P., Porcella, A. Fiorelli, G. (2000a) Oral isobutyramide therapy in patients with thalassemia intermedia: results of a phase II open study. Blood Cells Molecules & Disease, 26, 105 111.
26. Cappellini, M.D., Robbiolo, L., Bottasso, B.M., Coppola, R., Fiorelli, G. Mannucci, A.P. (2000b) Venous thromboembolism and hypercoagulability in splenectomized patients with thalassaemia intermedia. British Journal of Haematology, 111, 467 473.
27. Chaidos, A., Makis, A., Hatzimichael, E., Tsiara, S., Gouva, M., Tzouvara, E. Bourantas, K.S. (2004) Treatment of beta-thalassemia patients with recombinant human erythropoietin: effect on transfusion requirements and soluble adhesion molecules. Acta Haematologica, 111, 189 195.
28. Chang, A.H. Sadelain, M. (2007) The genetic engineering of hematopoietic stem cells: the rise of lentiviral vectors, the conumdrum of the LTR, and the promise of lineage-restricted vectors. Molecular Therapy, 15, 445 456.
29. Chang, J.C., Ye, L. Kan, Y.W. (2006) Correction of the sickle cell mutation in embryonic stem cells. Proceedings of the National Academy of Sciences of the United States of America, 103, 1036 1040.
30. Chehal, A., Aoun, E., Koussa, S., Skoury, H., Koussa, S. Taher, A. (2003) Hypertransfusion: a successful method of treatment in thalassemia intermedia patients with spinal cord compression secondary to extramedullary hematopoiesis. Spine, 28, E245.
31. Chim, C.S., Kwong, Y.L., Lie, A.K., Ma, S.K., Chan, C.C., Wong, L.G., Kho, B.C., Lee, H.K., Sim, J.P., Chan, C.H., Chan, J.C., Yeung, Y.M., Law, M. Liang, R. (2005) Long-term outcome of 231 patients with essential thrombocythemia: prognostic factors for thrombosis, bleeding, myelofibrosis, and leukemia. Archives of Internal Medicine, 165, 2651 2658.
32. Cianciulli, P., di Toritto, T.C., Sorrentino, F., Sergiacomi, L., Massa, A. Amadori, S. (2000) Hydroxyurea therapy in paraparesis and cauda equina syndrome due to extramedullary haematopoiesis in thalassaemia: improvement of clinical and haematological parameters. European Journal of Haematology, 64, 426 429.
33. Cianciulli, P., Sorrentino, F., Maffei, L., Amadori, S., Cappabianca, M.P., Foglietta, E., Carnevali, E. Pasquali-Ronchetti, I. (2002) Cardiovascular involvement in thalassemic patients with Pseudoxanthoma elasticum-like skin lesions. A long term follow up study. European Journal of Clinical Investigation In Press, 32, 700 706.
34. Danel, P., Girot, R. Tchernia, G. (1983) Thalassemia major manifested by megaloblastic anemia caused by folate deficiency. Archives Francaises de Pediatrie, 40, 799 801.
35. Davies, J.M., Barnes, R. Milligan, D. (2002) Update of guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen. Clinical Medicine, 2, 440 443.
36. De Paula, E.W., Lima, C.S., Arruda, W.R., Alberto, F.L., Saad, S.T. Costa, F.F. (2003) Long-term hydroxyurea in beta-thalassemia patients. European Journal of Haematology, 70, 151 155.
37. De Stefano, P., Zecca, M., Giorgiani, G., Perotti, C., Giraldi, E. Locatelli, F. (1999) Resolution of immune haemolytic anaemia with allogeneic bone marrow transplantation after an unsuccessful autograft. British Journal of Haematology, 106, 1063 1064.
38. Deane, A., Constancio, L., Fogelman, I. Hampson, G. (2007) The impact of vitamin D status on changes in bone mineral density during treatment with bisphosphonates and after discontinuation following long-term use in post-menopausal osteoporosis. BMC Musculoskeletal Disorders, 8, 3. doi:10.1186/1471-2474-8-3.
39. Derchi, G., Forni, G.L., Formisano, F., Cappellini, M.D., Galanello, R., D'Ascola, G., Bina, P., Magnano, C. Lamagna, M. (2005) Efficacy and safety of sildenafil in the treatment of severe pulmonary hypertension in patients with hemoglobinopathies. Haematologica, 90, 452 458.
40. DeSimone, J., Heller, P., Hall, L. Zwiers, D. (1982) 5-Azacytidine stimulates fetal hemoglobin synthesis in anemic baboons. Proceedings of the National Academy of Sciences of the United States of America, 79, 4428 4431.
41. Dixit, A., Chatterjee, T.C., Mishra, P., Choudhrey, D.R., Mahapatra, M., Tyagi, S., Kabra, M., Saxsena, R. Choudrey, W.P. (2005) Hydroxyurea in thalassemia intermedia-a promising therapy. Annals of Hematology, 84, 441 446.
42. Dore, F., Cianciulli, P., Rovasio, S., Oggiano, L., Bonfigli, S., Murineddu, M., Pardini, S., Simonetti, G., Gualdi, G., Papa, G. Longinotti, M. (1992) Incidence and clinical study of ectopic erythropoiesis in adult patients with thalassemia intermedia. Annali Italiani di Medicina Interna, 7, 137 140.
43. Dore, F., Bonfigli, S., Gaviano, E., Pardini, S. Longinotti, M. (1996) Serum tranferrin receptor levels in patients with thalassemia intermedia during rHuEPO administration. Haematologica, 81, 37 39.
44. Dover, G.J. (1998) Hemoglobin switching protocols in thalassemia: experience with sodium phenylbutyrate and hydroxyurea. Annals of the New York Academy of Science, 850, 80 86.
45. Eldor, A. Rachmilewitz, E.A. (2002) The hypercoagulable state in thalassemia. Blood, 99, 36 43.
46. Esposito, B.P., Breuer, W., Sirankapracha, P., Pootrakul, P., Hershko, C. Cabantchik, Z.I. (2003) Labile plasma iron in iron overload: redox activity and susceptibility to chelation. Blood, 102, 2670 2677.
47. Fibach, E., Kollia, P., Schechter, A.N., Noguchi, C.T. Rodgers, G.P. (1995) Hemin-induced acceleration of hemoglobin production in immature cultured erythroid cells: preferential enhancement of fetal hemoglobin. Blood, 85, 2967 2974.
48. de Franceschi, L., Turrini, F., Honczarenko, M., Ayi, K., Rivera, A., Fleming, M.D., Law, T., Mannu, F., Kuypers, F.A., Bast, A., van der Vijgh, W.J. Brugnara, C. (2004) In vivo reduction of erythrocyte oxidant stress in a murine model of beta-thalassemia. Haematologica, 89, 1287 1298.
49. Gabbay, E., Reed, A. Williams, T.J. (2007) Assessment and treatment of pulmonary arterial hypertension: an Australian perspective in 2006. Internal Medicine Journal, 37, 38 48.
50. Galanello, R., Perseu, L., Giagu, N., Sole, G. Perra, C. (2003) AHSP expression in beta thalassemia carriers with thalassemia intermedia phenotype. Blood, 102, 1881 (abstract).
51. Gamberini, M.R., Fortini, M. De Sanctis, V. (2004) Healing of leg ulcers with hydroxyurea in thalassaemia intermedia patients with associated endocrine complications. Pediatric Endocrinology Reviews, 2 (Suppl. 2 319 322.
52. Gardenghi, S., Marongiu, M.F., Ramos, P., Guy, E., Breda, L., Chadburn, A., Liu, Y., Amariglio, N., Rechavi, G., Rachmilewitz, E.A., Breuer, W., Cabantchik, Z.I., Wrighting, D.M., Andrews, N.C., de Sousa, M., Giardina, P.J., Grady, R.W. Rivella, S. (2007) Ineffective erythropoiesis in beta-thalassemia is characterized by increased iron absorption mediated by down-regulation of hepcidin and up-regulation of ferroportin. Blood, [Epub ahead of print] doi:10·1182/blood-2006-09-048868.
53. Glickstein, H., El, R.B., Link, G., Breuer, W., Konijn, A.M., Hershko, C., Nick, H. Cabantchik, Z.I. (2006) Action of chelators in iron-loaded cardiac cells: accessibility to intracellular labile iron and functional consequences. Blood, 108, 3195 3203.
54. Gotte, P., Consolo, U., Faccioni, F. Bertoldi, C. (2001) Associated orthodontic, surgical and hematological management of Cooley s anemia. Report of a case. Minerva Stomatologica, 50, 47 54.
55. Hamlin, N., Beck, K., Baccelli, B., Cianciulli, P., Pasquali-Ronchetti, I. Le Saux, O. (2003) Acquired pseudoxanthoma elasticum-like syndrome in beta-thalassemia patients. British Journal of Haematology, 122, 852 854.
56. Hansen, K. Singer, D.B. (2001) Asplenic-hyposplenic overwhelming sepsis, postsplenectomy sepsis revisited. Pediatric and Developmental Pathology, 4, 105 121.
57. Hershko, C. (2006) Oral iron chelators: new opportunities and new dilemmas. Haematologica, 91, 1307 1312.
58. Hodsman, A., Papaioannou, A. Cranney, A. (2006) Clinical practice guidelines for the use of parathyroid hormone in the treatment of osteoporosis. CMAJ, 175, 48.
59. Hoppe, C., Vichinsky, E., Lewis, B., Foote, D. Styles, L. (1999) Hydroxyurea and sodium phenylbutyrate therapy in thalassemia intermedia. American Journal of Hematology, 62, 221 227.
60. Ikeda, M., Sekimoto, M., Takiguchi, S., Kubota, M., Ikenaga, M., Yamamoto, H., Fujiwara, Y., Ohue, M., Yasuda, T., Imamura, H., Tatsuta, M., Yano, M., Furukawa, H. Monden, M. (2005) High incidence of thrombosis of the portal venous system after laparoscopic splenectomy: a prospective study with contrast-enhanced CT scan. Annals of Surgery, 241, 208 216.
61. Jurkiewicz, M.J., Pearson, H.A. Furlow, L.T. (1967) Surgical reconstruction of the maxilla in severe thalassemia. Plastic and Reconstructive Surgery, 39, 459 464.
62. Karimi, M., Darzi, H. Yavarian, M. (2005) Hematologic and clinical responses of thalassemia intermedia patients to hydroxyurea during 6 years of therapy in Iran. Journal of Pediatric Hematology/Oncology, 27, 380 385.
63. Karvounis, H.I., Zaglavara, T.A., Parharidis, G.E., Nouskas, I.G., Hassapopoulou, E.P., Gemitzis, K.D. Louridas, G.E. (2001) An angiotensin-converting enzyme inhibitor improves left ventricular systolic and diastolic function in transfusion-dependent patients with beta-thalassemia major. American Heart Journal, 141, 281.
64. Kattamis, A., Papassotiriou, I., Palaiologou, D., Apostolakou, F., Galani, A., Ladis, V., Sakellaropoulos, N. Papanikolaou, G. (2006) The effects of erythropoietic activity and iron burden on hepcidin expression in patients with thalassemia major. Haematologica, 91, 809 812.
65. Kumar, V. Gruber, B. (2003) Tophaceous gout in a patient with thalassemia. Journal of Clinical Rheumatology, 9, 280 284.
66. Ley, T.J., DeSimone, J., Anagnou, N.P., Keller, G.H., Humphries, R.K., Turner, T.H., Young, N.S., Keller, P. Nienhuis, A.W. (1982) 5-Azacytidine selectively increases gamma-globin synthesis in a patients with beta+-thalassemia. New England Journal of Medicine, 307, 1469 1475.
67. Lialios, G., Makrydimas, G., Tsanadis, G., Lolis, D. Bourantas, K. (2000) Effective treatment of beta-thalassemia intermedia during pregnancy with rHuEpo. A case report. Minerva Ginecologica, 52, 29 31.
68. Littera, R., La Nasa, G., Derchi, G., Cappellini, M.D., Chang, C.Y. Contu, L. (2002) Long-term treatment with sildenafil in a thalassemic patient with pulmonary hypertension. Blood, 100, 1516 1517.
69. Locatelli, F. (2006) Reduced-intensity regimens in allogeneic hematopoietic stem cell transplantation for hemoglobinopathies. Hematology/American Society of Hematology Education Program, 398 401.
70. Loukopoulos, D., Voskaridou, E., Stamoulakatou, A., Papassotiriou, Y., Kalotychou, V., Loutradi, A., Cozma, G., Tsiarta, H. Pavlides, N. (1998) Hydroxyurea therapy in thalassemia. Annals of the New York Academy of Sciences, 850, 120 128.
71. Malik, P., Arumgam, P.I., Yee, J.K. Puthenveetil, G. (2005) Successful correction of the human Cooley's anemia beta-thalassemia major phenotype using a lentiviral vector flanked by the chicken hypersensitive site 4 chromatin insulator. Annals of the New York Academy of Sciences, 1054, 238 249.
72. Mancuso, A., Maggio, A., Renda, D., Di Marzo, R. Rigano, P. (2006) Treatment with hydroxycarbamide for intermedia thalassaemia: decrease of efficacy in some patients during long-term follow up. British Journal of Haematology, 133, 105 106.
73. Meunier, P.J. (2001) Anabolic agents for treating postmenopausal osteoporosis. Joint Bone Spine, 68, 576 581.
74. Migliorati, C.A., Siegel, M.A. Elting, L.S. (2006) Bisphosphonate- associated osteonecrosis: a long-term complication of bisphosphonate treatment. Lancet Oncology, 7, 508 514.
75. Mojtahedzadeh, F., Kosaryan, M., Mahdavi, M.R. Akbari, J. (2006) The effect of folic acid supplementation in beta-thalassemia major: a randomized placebo-controlled clinical trial. Archives of Iranian Medicine, 9, 266 268.
76. de Montalembert, M., Girot, R., Revillon, Y., Jan, D., Adjrad, L., Ardjoun, F.Z., Belhani, M. Najean, Y. (1990) Partial splenectomy in homozygous beta thalassaemia. Archives of Disease in Childhood, 65, 304 307.
77. Napoli, N., Carmina, E., Bucchieri, S., Sferrazza, C., Rini, G.B. Di Fede, G. (2006) Low serum levels of 25-hydroxy vitamin D in adults affected by thalassemia major or intermedia. Bone, 38, 888 892.
78. Nassar, A.H., Usta, I.M., Rechdan, J.B., Koussa, S., Inati, A. Taher, A.T. (2006) Pregnancy in patients with beta-thalassemia intermedia: outcome of mothers and newborns. American Journal of Hematology, 81, 499 502.
79. Nienhuis, A.W. (1981) Vitamin C and iron. New England Journal of Medicine, 304, 170 171.
80. Nisli, G., Kavakli, K., Vergin, C., Oztop, S. Cetingul, N. (1996) Recombinant human EPO trial in T.I. Journal of Tropical Pediatrics, 42, 330 334.
81. Olivieri, N.F., Freedman, M.H., Perrine, S.P., Dover, G.J., Sheridan, B., Essentine, D.L. Nagel, R.L. (1992) Trial of recombinant human erythropoietin: three patients with thalassemia intermedia. Blood, 80, 3258 3260.
82. Ortuno, F., Remacha, A., Martin, S., Soler, J. Gimferrer, E. (1990) Prevalence of folate deficiency in beta and delta-beta heterozygous thalassemia. Haematologica, 75, 585.
83. Pace, B., Li, Q., Peterson, K. Stamatoyannopoulos, G. (1994) Alpha-amino butyric acid cannot reactivate the silenced gamma gene of the beta locus YAC transgenic mouse. Blood, 84, 4344 4353.
84. Pace, B.S., Shartava, A., Pack-Mabien, A., Mulekar, M., Ardia, A. Goodman, S.R. (2003) Effects of N-acetylcysteine on dense cell formation in sickle cell disease. American Journal of Haematology, 73, 26 32.
85. Paik, C.H., Alavi, I., Dunea, G. Weiner, L. (1970) Thalassemia and gouty arthritis. The Journal of the American Medical Association, 213, 296 297.
86. Panigrahi, I., Dixit, A., Arora, S., Kabra, M., Mahapatra, M., Choudhry, V.P. Saxena, R. (2005) Do alpha deletions influence hydroxyurea response in thalassemia intermedia? Hematology, 10, 61 63.
87. Papadimas, J., Goulis, D.G., Mandala, E., Georgiadis, G., Zournatzi, V., Tarlatzis, B.C. Bontis, J.N. (2002) Beta-thalassemia and gonadal axis: a cross-sectional, clinical study in a Greek population. Hormones (Athens), 1, 179 187.
88. Perrine, S.P., Miller, B.A., Greene, M.F., Cohen, R.A., Cook, N., Shackleton, C. Faller, D.V. (1987) Butyric acid analogues augment gamma globin gene expression in neonatal erythroid progenitors. Biochemical and Biophysical Research Communications, 148, 694 700.
89. Perrine, S.P., Rudolph, A., Faller, D.V., Roman, C., Cohen, R.A., Chen, S.J. Kan, Y.W. (1988) Butyrate infusions in the ovine fetus delay the biologic clock for globin gene switching. Proceedings of the National Academy of Sciences of the United States of America, 85, 8540 8542.
90. Pierre, B., Maillot, F., Casset-Sedon, D., Regina, S., Sitbon, O. Cosnay, P. (2006) Chronic pulmonary thromboembolism revealing beta-thalassemia intermedia after splenectomy. La Revue de Medecine Interne, 27, 950 953.
91. Politis, C., Spigos, D.G., Georgiopoulou, P., Vrettou, H., Economidou, I., Germenis, A.E., Richardson, C. Papaevangelou, G. (1987) Partial splenic embolization for hypersplenism of thalassaemia major, five-year follow up. British Medical Journal, 294, 665 667.
92. Pornsuriyasak, P., Suwatanapongched, T., Wangsuppasawad, N., Ngodngamthaweesuk, M. Angchaisuksiri, P. (2006) Massive hemothorax in a beta-thalassemic patient due to spontaneous rupture of extramedullary hematopoietic masses: diagnosis and successful treatment. Respiratory Care, 51, 272 276.
93. Quek, L. Thein, S.L. (2006) Molecular therapies in β-thalassaemia. British Journal of Haematology, 136, 353 365.
94. Rosen, C.J. (2005) Clinical practice. Postmenopausal osteoporosis. New England Journal of Medicine, 353, 595 603.
95. Rund, D. Rachmilewitz, E. (2000) New trends in the treatment of beta-thalassemia. Critical Reviews in Oncology/Hematology, 33, 105 118.
96. Sadelain, M. (2006) Recent advances in globin gene transfer for the treatment of beta-thalassemia and sickle cells anemia. Current Opinion in Hematology, 13, 142 148.
97. Samakoglu, S., Lisowski, L., Budak-Alpdogan, T., Usachenko, Y., Acuto, S., Di Marzo, R., Maggio, A., Zhu, P., Tisdale, J.F., Riviere, I. Sadelain, M. (2006) A genetic strategy to treat sickle cell anemia by coregulating globin transgene expression and RNA interference. Nature Biotechnology, 24, 89 94.
98. Serjeant, G.R., Topley, J.M., Mason, K., Serjeant, B.E., Pattison, J.R., Jones, S.E. Mohamed, R. (1981) Outbreak of aplastic crises in sickle cell anaemia associated with parvovirus-like agent. Lancet, 2, 595.
99. Sherer, D.W., Singer, G., Uribarri, J., Phelps, R.G., Sapadin, A.N., Freund, K.B., Yanuzzi, L., Fuchs, W. Lebwohl, M. (2005) Oral phosphate binders in the treatment of pseudoxanthoma elasticum. Journal of the American Academy of Dermatology, 53, 610 615.
100. Singer, S.T., Wu, V., Mignacca, R., Kuypers, F.A., Morel, P. Vichinsky, E.P. (2000) Alloimmunization and erythrocyte autoimmunization in transfusion-dependent thalassemia patients of predominantly Asian descent. Blood, 96, 3369 3373.
101. Singer, S.T., Sweeters, N., Vichinsky, E.P., Wagner, A.J. Rachmilewitz, E.A. (2003) A dose-finding and safety study of darbopoietin alfa (erythropoiesis stimulating protein) for the treatment of anemia in patients with thalassemia intermedia. Blood, 102, 268a.
102. Singer, S.T., Kuypers, F.A., Olivieri, N.F., Weatherall, D.J., Mignacca, R., Coates, T.D., Davies, S., Sweeters, N. Vichinsky, E.P. E/beta Thalassaemia Study Group (2005) Fetal haemoglobin augmentation in E/beta(0) thalassaemia: clinical and haematological outcome. British Journal of Haematology, 131, 378 388.
103. Skordis, N., Christou, S., Koliou, M., Pavlides, N. Angastiniotis, M. (1998) Fertility in female patients with thalassemia. Journal of Pediatric endocrinology & metabolism, 11, 935 943.
104. Spanos, T., Karageorga, M., Ladis, V., Peristeri, J., Hatziliami, A. Kattamis, C. (1990) Red cell alloantibodies in patients with thalassemia. Vox Sanguinis, 58, 50 55.
105. Suwanmanee, T., Sierakowska, H., Fucharoen, S. Kole, R. (2002) Repair of a splicing defect in erythroid cells from patients with beta-thalassemia/HbE disorder. Molecular Therapy, 6, 718 726.
106. Taher, A., Isma'eel, H., Mehio, G., Bignamini, D., Kattamis, A., Rachmilewitz, E.A. Cappellini, M.D. (2006) Prevalence of thromboembolic events among 8,860 patients with thalassemia major and intermedia in the Mediterranean area and Iran. Thrombosis and Haemostasis, 96 (4 488 491.
107. Tesoriere, L., D'Arpa, D., Maggio, A., Giaccone, V., Pedone, E. Livrea, M.A. (1998) Oxidation resistance of LDL is correlated with vitamin E status in beta-thalassemia intermedia. Atherosclerosis, 137, 429 435.
108. Tesoriere, L., D'Arpa, D., Bufera, D., Allegra, M., Renda, D., Maggio, A., Buongiorno, A. Livrea, M.A. (2001) Oral supplements of vitamin E improve measures of oxidative stress in plasma and reduce oxidative damage to LDL and erythrocytes in beta-thalassemia intermedia patients. Free Radical Research, 34, 529 540.
109. Tesoriere, L., Allegra, M., Bufera, D., Gentile, C. Livrea, M.A. (2006) Cytoprotective effects of the antioxidant phytochemical indicaxanthin in beta-thalassemic red blood cells. Free Radical Research, 40, 753 761.
110. Vento, S., Cainelli, F. Cesario, F. (2006) Infections and thalassaemia. The Lancet Infectious Diseases, 6, 226 233.
111. Vichinsky, E.P. (2004) Pulmonary hypertension in sickle cell disease. New England Journal of Medicine, 350, 857 859.
112. Vogiatzi, M.G., Autio, K.A., Mait, J.E., Schneider, R., Lesser, M. Giardina, P.J. (2005) Low bone mineral density in adolescents with beta-thalassemia. Annals of the New York Academy of Sciences, 1054, 462 466.
113. Voskaridou, E., Anagnostopoulos, A., Konstantopoulos, K., Stoupa, E., Spyropoulou, E., Kiamouris, C. Terpos, E. (2006) Zoledronic acid for the treatment of osteoporosis in patients with beta-thalassemia: results from a single-center, randomized, placebo-controlled trial. Haematologica, 91, 1193 1202.
114. Weinberg, R.S., Ji, X., Sutton, M., Perrine, S., Galperin, Y., Li, Q., Liebhaber, S.A., Stamatoyannopoulos, G. Atweh, G.F. (2005) Butyrate increases the efficiency of translation of gamma-globin mRNA. Blood, 105, 1807 1809.
115. Wilson, S. (2000) Acute leukemia in a patient with sickle cell anemia treated with hydroxyurea. Annals of Internal Medicine, 133, 925 926.
116. Woo, G.H., Katayama, K., Bak, E.J., Ueno, M., Yamauchi, H., Uetsuka, K., Nakayama, H. Doi, K. (2004) Effects of prenatal hydroxyurea-treatment on mouse offspring. Experimental and Toxicologic Pathology, 56, 1 7.
117. Wu, L.C., Sun, C.W., Ryan, T.M., Pawlik, K.M., Ren, J. Townes, T.M. (2006) Correction of sickle cell disease by homologous recombination in embryonic stem cells. Blood, 108, 1183 1188.