| Orphanet Journal of Rare Diseases | |
| Regional consensus opinion for the management of Beta thalassemia major in the Arabian Gulf area | |
| Shaker A Mousa6  Khoutir Mahour2  Ahmad Al Rustumani8  Shaker Abdullah1  Hussain H Al Saeed3  Abdullah Aljefri7  Abdulkareem Almomen1,12  Ibrahim A Alhijji4  Azzah Alzahrani5  Mohammad Alshahrani5  Muneer H Albagshi1,11  Yasser Wali9  Mohamad H Qari1,10  | |
| [1] Princess Noura Oncology Center, King Abdulaziz Medical City, Jeddah, Saudi Arabia;Hopitaux Du Leman, Annemasse, France;Department of Medicine, Qatif Central Hospital, Qatif Eastern Province, Saudi Arabia;Clinical Hematology Unit, Department of Medical Oncology, National Centre for Cancer Care and Research, Hamad Medical Corporation, Doha, Qatar;Prince Sultan Military Medical City, Riyadh, Saudi Arabia;The Pharmaceutical Research Institute at Albany College of Pharmacy and Health Sciences, Rensselaer, New York, USA;King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;Dubai Health Care City, Dubai, United Arab Emirates;College of Medicine, SQU, Muscat, Oman;College of Medicine, King Abdul Aziz University, Jeddah, Saudi Arabia;Maternity and Children Hospital, Al Ahsa, Saudi Arabia;College of Medicine & KKUH, King Saud University, Riyadh, Saudi Arabia | |
| 关键词: Transfusion; Thalassemia management; Iron overload; Iron chelation therapy; Arabian Gulf; Chelation; Anemia; | |
| Others : 863546 DOI : 10.1186/1750-1172-8-143 |
|
| received in 2013-06-14, accepted in 2013-09-06, 发布年份 2013 | |
PDF
|
|
【 摘 要 】
Thalassemia syndrome has diverse clinical presentations and a global spread that has far exceeded the classical Mediterranean basin where the mutations arose. The mutations that give rise to either alpha or beta thalassemia are numerous, resulting in a wide spectrum of clinical severity ranging from carrier state to life-threatening, inherited hemolytic anemia that requires regular blood transfusion. Beta thalassemia major constitutes a remarkable challenge to health care providers. The complications arising due to the anemia, transfusional iron overload, as well as other therapy-related complications add to the complexity of this condition. To produce this consensus opinion manuscript, a PubMed search was performed to gather evidence-based original articles, review articles, as well as published work reflecting the experience of physicians and scientists in the Arabian Gulf region in an effort to standardize the management protocol.
【 授权许可】
2013 Qari et al.; licensee BioMed Central Ltd.
【 预 览 】
| Files | Size | Format | View |
|---|---|---|---|
| 20140725045643128.pdf | 316KB |
【 参考文献 】
- [1]Higgs DR, Engel JD, Stamatoyannopoulos G: Thalassaemia. Lancet 2012, 379:373-383.
- [2]Viprakasit V, Lee-Lee C, Chong QT, Lin KH, Khuhapinant A: Iron chelation therapy in the management of thalassemia: the Asian perspectives. Int J Hematol 2009, 90:435-445.
- [3]Akhtar MS, Qaw F, Borgio JF, Albuali W, Suliman A, Nasserullah Z, Al-Jarrash S, Al-Ali A: Spectrum of alpha-thalassemia mutations in transfusion-dependent beta-thalassemia patients from the Eastern Province of Saudi Arabia. Hemoglobin 2013, 37:65-73.
- [4]Thalassemia. http://www.cdc.gov/ncbddd/blooddisorders/documents/BBV_PNV_C0_1159_Thalassemia_R2mtr.pdf webcite
- [5]Nienhuis AW, Nathan DG: Pathophysiology and Clinical Manifestations of the beta-Thalassemias. Cold Spring Harb Perspect Med 2012, 2:a011726.
- [6]Cappellini MD, Cohen A, Piga A, Bejaoui M, Perrotta S, Agaoglu L, Aydinok Y, Kattamis A, Kilinc Y, Porter J, Capra M, Galanello R, Fattoum S, Drelichman G, Magnano C, Verissimo M, Athanassiou-Metaxa M, Giardina P, Kourakli-Symeonidis A, Janka-Schaub G, Coates T, Vermylen C, Olivieri N, Thuret I, Opitz H, Ressayre-Djaffer C, Marks P, Alberti D: A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with beta-thalassemia. Blood 2006, 107:3455-3462.
- [7]Wood JC, Claster S, Carson S, Menteer JD, Hofstra T, Khanna R, Coates T: Vitamin D deficiency, cardiac iron and cardiac function in thalassaemia major. Br J Haematol 2008, 141:891-894.
- [8]Muncie HL Jr, Campbell J: Alpha and beta thalassemia. Am Fam Physician 2009, 80:339-344.
- [9]Quek L, Thein SL: Molecular therapies in beta-thalassaemia. Br J Haematol 2007, 136:353-365.
- [10]Verma IC, Kleanthous M, Saxena R, Fucharoen S, Winichagoon P, Raizuddin S, Khan SN, Akbari MT, Izadyar M, Kotea N, Old JM, Ioannou PA, Khan B: Multicenter study of the molecular basis of thalassemia intermedia in different ethnic populations. Hemoglobin 2007, 31:439-452.
- [11]Alamiry AAN, Ali TH, Majeed MN: Detection of Hemoglobinopathies in Hypochromic, Microcytic and Sickeled Cell Blood Films by Hemoglobin Electrophoresis. Thi-Qar Med J 2011, 5:139-148.
- [12]Al-Sulaiman A: Prevalence of β-thalassemia trait in premarital screening in Al-Hassa, Saudi Arabia. Ann Saudi Med 2006, 26:14-16.
- [13]Nadkarni KV, Al-Arrayed SS, Bapat JP: Incidence of Genetic Disorders of Hemoglobins in the Hospital Population of Bahrain. Bahrain Med Bull 1991., 13
- [14]Fawzi ZO, Al Hilali A, Fakhroo N, Al Bin Ali A, Al Mansour S: Distribution of Hemoglobinopathies and Thalassemias in Qatari Nationals Seen at Hamad Hospital in Qatar. Qatar Med J 2003., 12
- [15]White JM, Byrne M, Richards R, Buchanan T, Katsoulis E, Weerasingh K: Red cell genetic abnormalities in Peninsular Arabs: sickle haemoglobin, G6PD deficiency, and alpha and beta thalassaemia. J Med Genet 1986, 23:245-251.
- [16]Rajab AG, Patton MA, Modell B: Study of hemoglobinopathies in Oman through a national register. Saudi Med J 2000, 21:1168-1172.
- [17]Al-Riyami A, Ebrahim GJ: Genetic Blood Disorders Survey in the Sultanate of Oman. J Trop Pediatr 2003, 49(Suppl 1):i1-20.
- [18]Al-Sultan A, Phanasgaonkar S, Suliman A, Al-Baqushi M, Nasrullah Z, Al-Ali A: Spectrum of beta-thalassemia mutations in the eastern province of Saudi Arabia. Hemoglobin 2011, 35:125-134.
- [19]Pembrey ME, Perrine RP, Wood WG, Weatherall DJ: Sickle beta 0 thalassemia in Eastern Saudi Arabia. Am J Hum Genet 1980, 32:26-41.
- [20]Flint J, Harding RM, Boyce AJ, Clegg JB: The population genetics of the haemoglobinopathies. Baillieres Clin Haematol 1998, 11:1-51.
- [21]Zahed L: The Spectrum of beta-Thalassemia Mutations in the Arab Populations. J Biomed Biotechnol 2001, 1:129-132.
- [22]El-Hazmi MA, Warsy AS, Al-Swailem AR: The frequency of 14 beta-thalassemia mutations in the Arab populations. Hemoglobin 1995, 19:353-360.
- [23]Baysal E: Molecular heterogeneity of beta-thalassemia in the United Arab Emirates. Community Genet 2005, 8:35-39.
- [24]Aydinok Y: Thalassemia. Hematology 2012, 17(Suppl 1):S28-31.
- [25]Tassiopoulos T, Rombos Y, Konstantopoulos K, Revenas K, Tassiopoulos S, Aessopos A: Spleen size in beta-thalassaemia heterozygotes. Haematologia (Budap) 1995, 26:205-209.
- [26]Karimi M, Bagheri MH, Tahmtan M, Shakibafard A, Rashid M: Prevalence of hepatosplenomegaly in beta thalassemia minor subjects in Iran. Eur J Radiol 2009, 69:120-122.
- [27]Olivieri NF: The beta-thalassemias. N Engl J Med 1999, 341:99-109.
- [28]Aessopos A, Farmakis D, Karagiorga M, Voskaridou E, Loutradi A, Hatziliami A, Joussef J, Rombos J, Loukopoulos D: Cardiac involvement in thalassemia intermedia: a multicenter study. Blood 2001, 97:3411-3416.
- [29]Taher AT, Musallam KM, El-Beshlawy A, Karimi M, Daar S, Belhoul K, Saned MS, Graziadei G, Cappellini MD: Age-related complications in treatment-naive patients with thalassaemia intermedia. Br J Haematol 2010, 150:486-489.
- [30]Forget B: Thalassemia Syndromes. In Hematology: Basic Principles and Practice. 3rd edition. Edited by Hoffman R, Benz EJ, Shattil S, Furie B, Cohen H, Silberstein L, McGlave P. New York: Churchill Livingstone; 2000.
- [31]Galanello R, Origa R: Beta-thalassemia. Orphanet J Rare Dis 2010, 5:11. BioMed Central Full Text
- [32]Cao A, Galanello R: Beta-thalassemia. Genet Med 2010, 12:61-76.
- [33]Cappellini MD, Musallam KM, Taher AT: Insight onto the pathophysiology and clinical complications of thalassemia intermedia. Hemoglobin 2009, 33(Suppl 1):S145-159.
- [34]Daar S, Gravell D, Hussein HM, Pathare AV, Wali Y, Krishnamoorthy R: Haematological and clinical features of beta-thalassaemia associated with Hb Dhofar. Eur J Haematol 2008, 80:67-70.
- [35]Tony S, Daar S, Elshinawy M, Al-Zadjaly S, Al-Khabori M, Wali Y: T2* MRI in regularly transfused children with thalassemia intermedia: serum ferritin does not reflect liver iron stores. Pediatr Hematol Oncol 2012, 29:579-584.
- [36]Bunn H, Forget B: Hemoglobin: Molecular, Genetic and Clinical Aspects. Philadelphia: W B Saunders Co.; 1986.
- [37]Weatherall D: The Thalessemias. In Molecular Basis of Blood Diseases. 2nd edition. Edited by Stamatoyannopoulos G, Nienhuis A, Majerus P. Philadelphia: W B Saunders Co; 1994.
- [38]Adams JG 3rd, Coleman MB: Structural hemoglobin variants that produce the phenotype of thalassemia. Semin Hematol 1990, 27:229-238.
- [39]Forget B, Pearson H: Hemoglobin Synthesis and the Thalassemias. In Blood: Principles and Practice of Hematology. Edited by Handin R, Lux S, Stoesel T. Philadelphia: JB Lippincott; 1995.
- [40]Schwartz E, Benx E Jr: Thalassemia Syndromes. In Smith's Blood Diseases of Infancy and Childhood. 6th edition. Edited by Miller D, Baehner R. St Louis: CV Mosby; 1989:428.
- [41]Vento S, Cainelli F, Cesario F: Infections and thalassaemia. Lancet Infect Dis 2006, 6:226-233.
- [42]Rahav G, Volach V, Shapiro M, Rund D, Rachmilewitz EA, Goldfarb A: Severe infections in thalassaemic patients: prevalence and predisposing factors. Br J Haematol 2006, 133:667-674.
- [43]Vichinsky EP: The morbidity of bone disease in thalassemia. Ann N Y Acad Sci 1998, 850:344-348.
- [44]Voskaridou E, Terpos E, Spina G, Palermos J, Rahemtulla A, Loutradi A, Loukopoulos D: Pamidronate is an effective treatment for osteoporosis in patients with beta-thalassaemia. Br J Haematol 2003, 123:730-737.
- [45]Farmaki K, Angelopoulos N, Anagnostopoulos G, Gotsis E, Rombopoulos G, Tolis G: Effect of enhanced iron chelation therapy on glucose metabolism in patients with beta-thalassaemia major. Br J Haematol 2006, 134:438-444.
- [46]Cunningham M, Sankaran V, Nathan D, Orkin S: The Thalassemias. In Nathan And Oski’s Hematology Of Infancy And Childhood. 7th edition. Philadelphia: Saunders Elsevier; 2009.
- [47]British Committee for Standards in Haematology Blood Transfusion Task Force: The administration of blood and blood components and the management of transfused patients. British Committee for Standards in Haematology, Blood Transfusion Task Force. Royal College of Nursing and the Royal College of Surgeons of England. Transfus Med 1999, 9:227-238.
- [48]Swanson K, Dwyre DM, Krochmal J, Raife TJ: Transfusion-related acute lung injury (TRALI): current clinical and pathophysiologic considerations. Lung 2006, 184:177-185.
- [49]Cazzola M, De Stefano P, Ponchio L, Locatelli F, Beguin Y, Dessi C, Barella S, Cao A, Galanello R: Relationship between transfusion regimen and suppression of erythropoiesis in beta-thalassaemia major. Br J Haematol 1995, 89:473-478.
- [50]Royal College of Physicians of Edinburgh: Consensus statement on red cell transfusion. Transfus Med 1994, 4:177-178.
- [51]Goodnough LT, Brecher ME, Kanter MH, AuBuchon JP: Transfusion medicine. First of two parts–blood transfusion. N Engl J Med 1999, 340:438-447.
- [52]Borgna-Pignatti C, Rugolotto S, De Stefano P, Zhao H, Cappellini MD, Del Vecchio GC, Romeo MA, Forni GL, Gamberini MR, Ghilardi R, Piga A, Cnaan A: Survival and complications in patients with thalassemia major treated with transfusion and deferoxamine. Haematologica 2004, 89:1187-1193.
- [53]Modell B, Khan M, Darlison M: Survival in beta-thalassaemia major in the UK: data from the UK Thalassaemia Register. Lancet 2000, 355:2051-2052.
- [54]Evangeli M, Mughal K, Porter JB: Which psychosocial factors are related to chelation adherence in thalassemia? A systematic review. Hemoglobin 2010, 34:305-321.
- [55]Andrews NC: Disorders of iron metabolism. N Engl J Med 1999, 341:1986-1995.
- [56]Gardenghi S, Marongiu MF, Ramos P, Guy E, Breda L, Chadburn A, Liu Y, Amariglio N, Rechavi G, Rachmilewitz EA, Breuer W, Cabantchik ZI, Wrighting DM, Andrews NC, de Sousa M, Giardina PJ, Grady RW, Rivella S: Ineffective erythropoiesis in beta-thalassemia is characterized by increased iron absorption mediated by down-regulation of hepcidin and up-regulation of ferroportin. Blood 2007, 109:5027-5035.
- [57]Kohgo Y, Ikuta K, Ohtake T, Torimoto Y, Kato J: Body iron metabolism and pathophysiology of iron overload. Int J Hematol 2008, 88:7-15.
- [58]Olivieri NF, Brittenham GM: Iron-chelating therapy and the treatment of thalassemia. Blood 1997, 89:739-761.
- [59]Morrison ED, Brandhagen DJ, Phatak PD, Barton JC, Krawitt EL, El-Serag HB, Gordon SC, Galan MV, Tung BY, Ioannou GN, Kowdley KV: Serum ferritin level predicts advanced hepatic fibrosis among U.S. patients with phenotypic hemochromatosis. Ann Intern Med 2003, 138:627-633.
- [60]Angelucci E, Brittenham GM, McLaren CE, Ripalti M, Baronciani D, Giardini C, Galimberti M, Polchi P, Lucarelli G: Hepatic iron concentration and total body iron stores in thalassemia major. N Engl J Med 2000, 343:327-331.
- [61]St Pierre TG, Clark PR, Chua-anusorn W, Fleming AJ, Jeffrey GP, Olynyk JK, Pootrakul P, Robins E, Lindeman R: Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance. Blood 2005, 105:855-861.
- [62]Anderson LJ, Holden S, Davis B, Prescott E, Charrier CC, Bunce NH, Firmin DN, Wonke B, Porter J, Walker JM, Pennell DJ: Cardiovascular T2-star (T2*) magnetic resonance for the early diagnosis of myocardial iron overload. Eur Heart J 2001, 22:2171-2179.
- [63]Elalfy M, Shebl S, Badr M, Elsafy U, Salama M, Al-Tonbary Y, Abdel Rahman Y, Qari M, Al Damnhouri G, Al Hawsawi Z, Wali Y, Yesilipek M, Kilinc Y, Yazman D, Karakas Z, Tricta F: Frequency of Agranulocytosis and Mild Neutropenia During Deferiprone Therapy in Clinical Practice. ASH Annual Meeting 2012, 120:996.
- [64]Vermylen C: What is new in iron overload? Eur J Pediatr 2008, 167:377-381.
- [65]Uygun V, Kurtoglu E: Iron-chelation therapy with oral chelators in patients with thalassemia major. Hematology 2013, 18:50-55.
- [66]Lucarelli G, Galimberti M, Polchi P, Angelucci E, Baronciani D, Giardini C, Politi P, Durazzi SM, Muretto P, Albertini F: Bone marrow transplantation in patients with thalassemia. N Engl J Med 1990, 322:417-421.
- [67]Lucarelli G, Galimberti M, Polchi P, Angelucci E, Baronciani D, Giardini C, Andreani M, Agostinelli F, Albertini F, Clift RA: Marrow transplantation in patients with thalassemia responsive to iron chelation therapy. N Engl J Med 1993, 329:840-844.
- [68]Sodani P, Gaziev D, Polchi P, Erer B, Giardini C, Angelucci E, Baronciani D, Andreani M, Manna M, Nesci S, Lucarelli B, Clift RA, Lucarelli G: New approach for bone marrow transplantation in patients with class 3 thalassemia aged younger than 17 years. Blood 2004, 104:1201-1203.
- [69]Al-Jefri A, Ayas A, Al Musa A, Al Mahr M, Al Saleh M, Rifai S, Sabbah R, Al Seraihy A, Al Ahmari A, Khairy E, Al Hassan I, El Solh H: Allogeneic stem cell transplantation in patients with beta-thalassemia: King Faisal Specialist Hospital and Research Centre Experience. Hemoglobin 2009, 33(Suppl 1):S183-187.
- [70]Smiers FJ, Krishnamurti L, Lucarelli G: Hematopoietic stem cell transplantation for hemoglobinopathies: current practice and emerging trends. Pediatr Clin North Am 2010, 57:181-205.
- [71]Al Jefri AH: Advances in allogeneic stem cell transplantation for hemoglobinopathies. Hemoglobin 2011, 35:469-475.
- [72]Gaziev J, Sodani P, Lucarelli G, Polchi P, Marktel S, Paciaroni K, Marziali M, Isgro A, Simone MD, Roveda A, Montuoro A, Lanti A, Alfieri C, De Angelis G, Gallucci C, Ciceri F, Roncarolo MG: Second hematopoietic SCT in patients with thalassemia recurrence following rejection of the first graft. Bone Marrow Transplant 2008, 42:397-404.
- [73]Lucarelli G, Gaziev J: Advances in the allogeneic transplantation for thalassemia. Blood Rev 2008, 22:53-63.
- [74]Bernardo ME, Piras E, Vacca A, Giorgiani G, Zecca M, Bertaina A, Pagliara D, Contoli B, Pinto RM, Caocci G, Mastronuzzi A, La Nasa G, Locatelli F: Allogeneic hematopoietic stem cell transplantation in thalassemia major: results of a reduced-toxicity conditioning regimen based on the use of treosulfan. Blood 2012, 120:473-476.
- [75]Li C, Wu X, Feng X, He Y, Liu H, Pei F, Liao J, He L, Shi L, Li N, Liu Q, Liu S, Chen G, Su Q, Ren Y, Wang Y, Tan W: A novel conditioning regimen improves outcomes in beta-thalassemia major patients using unrelated donor peripheral blood stem cell transplantation. Blood 2012, 120:3875-3881.
- [76]Locatelli F, Rocha V, Reed W, Bernaudin F, Ertem M, Grafakos S, Brichard B, Li X, Nagler A, Giorgiani G, Haut PR, Brochstein JA, Nugent DJ, Blatt J, Woodard P, Kurtzberg J, Rubin CM, Miniero R, Lutz P, Raja T, Roberts I, Will AM, Yaniv I, Vermylen C, Tannoia N, Garnier F, Ionescu I, Walters MC, Lubin BH, Gluckman E: Related umbilical cord blood transplantation in patients with thalassemia and sickle cell disease. Blood 2003, 101:2137-2143.
- [77]Alkindi S, Dennison D: Umbilical Cord Blood Banking and Transplantation: A short review. Sultan Qaboos Univ Med J 2011, 11:455-461.
- [78]Cianciulli P: Treatment of iron overload in thalassemia. Pediatr Endocrinol Rev 2008, 6(Suppl 1):208-213.
- [79]De Sanctis V: Growth and puberty and its management in thalassaemia. Horm Res 2002, 58(Suppl 1):72-79.
- [80]Low LC: Growth, puberty and endocrine function in beta-thalassaemia major. J Pediatr Endocrinol Metab 1997, 10:175-184.
- [81]Wonke B: Bone disease in beta-thalassaemia major. Br J Haematol 1998, 103:897-901.
- [82]Perera NJ, Lau NS, Mathews S, Waite C, Ho PJ, Caterson ID: Overview of endocrinopathies associated with beta-thalassaemia major. Intern Med J 2010, 40:689-696.
- [83]Raiola G, Galati MC, De Sanctis V, Caruso Nicoletti M, Pintor C, De Simone M, Arcuri VM, Anastasi S: Growth and puberty in thalassemia major. J Pediatr Endocrinol Metab 2003, 16(Suppl 2):259-266.
- [84]Chatterjee R, Bajoria R: Osteopenia-osteoporosis syndrome in patients with thalassemia: understanding of type of bone disease and response to treatment. Hemoglobin 2009, 33(Suppl 1):S136-138.
- [85]De Sanctis V, Skordis N, Galati MC, Raiola G, Giovannini M, Candini G, Kaffe K, Savvides I, Christou S: Growth hormone and adrenal response to intramuscular glucagon test and its relationship to IGF-1 production and left ventricular ejection fraction in adult B-thalassemia major patients. Pediatr Endocrinol Rev 2011, 8(Suppl 2):290-294.
- [86]Bajoria R, Chatterjee R: Hypogonadotrophic hypogonadism and diminished gonadal reserve accounts for dysfunctional gametogenesis in thalassaemia patients with iron overload presenting with infertility. Hemoglobin 2011, 35:636-642.
- [87]Merchant RH, Shirodkar A, Ahmed J: Evaluation of growth, puberty and endocrine dysfunctions in relation to iron overload in multi transfused Indian thalassemia patients. Indian J Pediatr 2011, 78:679-683.
- [88]Chatterjee R, Mukhopadhyay TN, Chandra S, Bajoria R: Sex steroid priming for induction of puberty in thalassemia patients with pulsatile reversible hypogonadotrophic hypogonadism. Hemoglobin 2011, 35:659-664.
- [89]Eldor A, Rachmilewitz EA: The hypercoagulable state in thalassemia. Blood 2002, 99:36-43.
- [90]Barnett CF, Hsue PY, Machado RF: Pulmonary hypertension: an increasingly recognized complication of hereditary hemolytic anemias and HIV infection. JAMA 2008, 299:324-331.
- [91]Rasekhi AR, Naderifar M, Bagheri MH, Shahriari M, Foroutan H, Karimi M, Nabavizadeh SA: Radiofrequency ablation of the spleen in patients with thalassemia intermedia: a pilot study. Am J Roentgenol 2009, 192:1425-1429.
- [92]Machado NO, Grant CS, Alkindi S, Daar S, Al-Kindy N, Al Lamki Z, Ganguly SS: Splenectomy for haematological disorders: a single center study in 150 patients from Oman. Int J Surg 2009, 7:476-481.
- [93]ACOG Committee: ACOG Practice Bulletin. Clinical Management Guidelines for Obstetrician-Gynecologists Number 64, July 2005 (Replaces Committee Opinion Number 238, July 2000): hemoglobinpathies in pregnancy. Obstetrics and Gynecology 2005, 106:203-210.
- [94]Cogliandro T, Derchi G, Mancuso L, Mayer MC, Pannone B, Pepe A, Pili M, Bina P, Cianciulli P, De Sanctis V, Maggio A: Society for the Study of T, Hemoglobinopathies: Guideline recommendations for heart complications in thalassemia major. J Cardiovasc Med (Hagerstown) 2008, 9:515-525.
- [95]Origa R, Piga A, Quarta G, Forni GL, Longo F, Melpignano A, Galanello R: Pregnancy and beta-thalassemia: an Italian multicenter experience. Haematologica 2010, 95:376-381.
- [96]Exjade product monograph USA 2011. http://www.drugs.com/monograph/exjade.html webcite
- [97]Ferriprox product monograph. http://www.drugs.com/monograph/deferiprone.html webcite
- [98]Deugnier Y, Turlin B, Ropert M, Cappellini MD, Porter JB, Giannone V, Zhang Y, Griffel L, Brissot P: Improvement in liver pathology of patients with beta-thalassemia treated with deferasirox for at least 3 years. Gastroenterology 2011, 141:e1201-1203. 1202–1211, 1211
- [99]Patel H, Qari M, Mousa S: Iron Balance in β-thalassemia: Maintaining an Oxidant/Antioxidant Ratio. J App Hematol 2012, 3:4-11.
- [100]Cappellini M-D, Cohen A, Eleftheriou A, Piga A, Porter J, Taher A: Guidelines for the clinical management of thalassemia. 2nd edition. Nicosia, Cyprus: Thalassemia International Federation; 2008.
- [101]Mahachoklertwattana P, Sirikulchayanonta V, Chuansumrit A, Karnsombat P, Choubtum L, Sriphrapradang A, Domrongkitchaiporn S, Sirisriro R, Rajatanavin R: Bone histomorphometry in children and adolescents with beta-thalassemia disease: iron-associated focal osteomalacia. J Clin Endocrinol Metab 2003, 88:3966-3972.
- [102]Tsay J, Yang Z, Ross FP, Cunningham-Rundles S, Lin H, Coleman R, Mayer-Kuckuk P, Doty SB, Grady RW, Giardina PJ, Boskey AL, Vogiatzi MG: Bone loss caused by iron overload in a murine model: importance of oxidative stress. Blood 2010, 116:2582-2589.
- [103]Lasco A, Morabito N, Gaudio A, Buemi M, Wasniewska M, Frisina N: Effects of hormonal replacement therapy on bone metabolism in young adults with beta-thalassemia major. Osteoporos Int 2001, 12:570-575.
- [104]Taksande A, Prabhu S, Venkatesh S: Cardiovascular aspect of Beta-thalassaemia. Cardiovasc Hematol Agents Med Chem 2012, 10:25-30.
- [105]Borgna Pignatti C, Carnelli V, Caruso V, Dore F, De Mattia D, Di Palma A, Di Gregorio F, Romeo MA, Longhi R, Mangiagli A, Melevendi C, Pizzarelli G, Musumeci S: Thromboembolic events in beta thalassemia major: an Italian multicenter study. Acta Haematol 1998, 99:76-79.
- [106]Cogliandro T, Derchi G, Mancuso L, Mayer MC, Pannone B, Pepe A, Pili M, Bina P, Cianciulli P, De Sanctis V, Maggio A: Guideline recommendations for heart complications in thalassemia major. J Cardiovasc Med (Hagerstown) 2008, 9:515-525.
- [107]Maggio A, Filosa A, Vitrano A, Aloj G, Kattamis A, Ceci A, Fucharoen S, Cianciulli P, Grady RW, Prossomariti L, Porter JB, Iacono A, Cappellini MD, Bonifazi F, Cassara F, Harmatz P, Wood J, Gluud C: Iron chelation therapy in thalassemia major: a systematic review with meta-analyses of 1520 patients included on randomized clinical trials. Blood Cells Mol Dis 2011, 47:166-175.
- [108]Modell B, Khan M, Darlison M, Westwood MA, Ingram D, Pennell DJ: Improved survival of thalassaemia major in the UK and relation to T2* cardiovascular magnetic resonance. J Cardiovasc Magn Reson 2008, 10:42. BioMed Central Full Text
- [109]Bourli E, Dimitriadou M, Economou M, Vlachaki E, Christoforidis A, Maratou E, Stanopoulos I, Argyropoulou P, Aivazis V: Restrictive pulmonary dysfunction and its predictors in young patients with beta-thalassaemia major. Pediatr Pulmonol 2012, 47:801-807.
- [110]Morris CR, Vichinsky EP: Pulmonary hypertension in thalassemia. Ann N Y Acad Sci 2010, 1202:205-213.
- [111]Chueamuangphan N, Wongtheptien W, Nawarawong W, Sukornthasarn A, Chuncharunee S, Tawichasri C, Patumanond J: Clinical indicators for pulmonary arterial hypertension in thalassemia. J Med Assoc Thai 2012, 95:16-21.
- [112]Aydinok Y, Erermis S, Bukusoglu N, Yilmaz D, Solak U: Psychosocial implications of Thalassemia Major. Pediatr Int 2005, 47:84-89.
- [113]Aydin B, Yaprak I, Akarsu D, Okten N, Ulgen M: Psychosocial aspects and psychiatric disorders in children with thalassemia major. Acta Paediatr Jpn 1997, 39:354-357.
- [114]Pakbaz Z, Treadwell M, Yamashita R, Quirolo K, Foote D, Quill L, Singer T, Vichinsky EP: Quality of life in patients with thalassemia intermedia compared to thalassemia major. Ann N Y Acad Sci 2005, 1054:457-461.
- [115]Guideline: Alternative approaches to the treatment of thalassemia. http://www.ithanet.eu/ithapedia/index.php/Guideline:Alternative_approaches_to_the_treatment_of_thalassemia webcite
- [116]Wang H: Prediction, validation and targeted interference of erythroid regulatory modules. In Dissertation. University Park, PA, USA: The Pennsylvania State University, Eberly College of Science; 2006.
- [117]Alhamdan NA, Almazrou YY, Alswaidi FM, Choudhry AJ: Premarital screening for thalassemia and sickle cell disease in Saudi Arabia. Genet Med 2007, 9:372-377.
- [118]Kuliev A, Rechitsky S, Verlinsky O, Ivakhnenko V, Evsikov S, Wolf G, Angastiniotis M, Georghiou D, Kukharenko V, Strom C, Verlinsky Y: Preimplantation diagnosis of thalassemias. J Assist Reprod Genet 1998, 15:219-225.
PDF