Guidelines for Diagnosis and Management of Beta-Thalassemia Intermedia

REFERENCES

• Olivieri NF. The β-thalassemias. N Engl J Med. 1999;341:99-109.
   PubMed Web of Science ®Google Scholar
• Rund D, Rachmilewitz E. β-Thalassemia. N Engl J Med. 2005;353:1135–1146.
   PubMed Web of Science ®Google Scholar
• Haddad A, Tyan P, Radwan A, Mallat N, Taher A. β-Thalassemia intermedia: A bird's-eye view. Turk J Haematol. 2014;31(1):5–16.
   PubMed Web of Science ®Google Scholar
• Taher AT, Musallam KM, Karimi M, Overview on practices in thalassemia intermedia management aiming for lowering complication rates across a region of endemicity: the OPTIMAL CARE study. Blood. 2010;115(10):1886–1892.
   PubMed Web of Science ®Google Scholar
• Taher A, Musallam K, Cappellini MD, Weatherall DJ. Optimal management of β thalassaemia intermedia. Br J Haematol. 2011;152:512–523.
   PubMed Web of Science ®Google Scholar
• Taher A, Isma'eel H, Cappellini MD. Thalassemia intermedia: Revisited. Blood Cells Mol Dis. 2006;37:12–20.
   PubMed Web of Science ®Google Scholar
• Camaschella C, Cappellini MD. Thalassemia Intermedia. Haematologica. 1995;80:58–68.
   PubMed Web of Science ®Google Scholar
• El Rassi F, Cappellini MD, Inati A, Taher A. Beta-thalassemia intermedia: An overview. Pediatric Annals. 2008;37(5):322–328.
   PubMed Web of Science ®Google Scholar
• Weatherall DJ. Thalassemia intermedia: cellular and molecular aspects. J Hematol. 2001;86(Suppl 1):186–188.
   Google Scholar
• Galanello R, Cao A. Relationship between genotype and phenotype. Thalassemia intermedia. Ann N Y Acad Sci. 1998;850:325–333.
   PubMed Web of Science ®Google Scholar
• Weatherall D. The molecular basis for phenotypic variability of the common thalassaemias. Mol Med Today. 1995;1:15–20.
   PubMedGoogle Scholar
• Weatherall DJ. Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nature Reviews Genetics. 2001;12:245–255.
   Google Scholar
• Moorchung N, Arya V, Agarwal S. Modifier genes and beta thalasaemia intermedia. Haema. 2006;9:505–510.
   Google Scholar
• Rachmilewitz A, Giardina P. How I treat thalassemia. Blood. 2011;118(13):3479–3488.
   PubMed Web of Science ®Google Scholar
• Thein SL. Genetic insights into the clinical diversity of beta thalassaemia. Br J Haematol. 2004;(124):264–274.
   PubMedGoogle Scholar
• Aessopos A, Kati M, Meletis J. Thalassemia intermedia today: should patients regularly receive transfusions? Transfusion. 2007;47:792–800.
   PubMed Web of Science ®Google Scholar
• Camaschella C, Kattamis AC, Petroni D, Different hematological phenotypes caused by the interaction of triplicated alphaglobin genes and heterozygous beta-thalassemia. Am J Hematol. 1997;(55):83–88.
   PubMedGoogle Scholar
• Rachid H, Hani M, Ali TT. Paraspinal extramedullary hematopoiesis in patients with thalassemia intermedia. Eur Spine J. 2010;19(6):871–878.
   PubMed Web of Science ®Google Scholar
• Karimi M, Cohan N, Bagheri MH, A lump on the head. Lancet. 2008;372:1436.
   PubMed Web of Science ®Google Scholar
• Karimi M, Cohan N, Pishdad P. Hydroxyurea as a first-line treatment of extramedullary hematopoiesis in patients with beta thalassemia: Four case reports. Hematology. 2014; [Epub ahead of print].
   Web of Science ®Google Scholar
• Taher A, Isma'eel H, Mehio G, Prevalence of thromboembolic events among 8,860 patients with thalas- saemia major and intermedia in the Mediterranean area and Iran. Thromb Haemost. 2006;96:488–491.
   PubMed Web of Science ®Google Scholar
• Taher AT, Musallam KM, Karimi M, Splenectomy and thrombosis: the case of thalassemia intermedia. J Thromb Haemost. 2010;8(10):2152–2158.
   PubMed Web of Science ®Google Scholar
• Karimi M, Bagheri H, Rastgu F, Rachmilewitz E. Magnetic resonance imaging to determine the incidence of brain ischaemia in patients with β-thalassaemia intermedia. Thromb Haemost. 2010;103:989–993.
   PubMed Web of Science ®Google Scholar
• Musallam KM, Taher AT, Karimi M, Rachmilewitz EA. Cerebral infarction in β-thalassemia intermedia: breaking the silence. Thromb Res. 2012;130(5):695–702.
   PubMed Web of Science ®Google Scholar
• Manfrè L, Giarratano E, Maggio A, MR imaging of the brain: findings in asymptomatic patients with thalassemia intermedia and sickle cell-thalassemia disease. AJR Am J Roentgenol. 1999;173(6):1477–1480.
   PubMed Web of Science ®Google Scholar
• Taher AT, Musallam KM, Nasreddine W, Asymptomatic brain magnetic resonance imaging abnormalities in splenectomized adults with thalassemia intermedia. J Thromb Haemost. 2010;8(1):54–59.
   PubMed Web of Science ®Google Scholar
• Karimi M, Khanlari M, Rachmilewitz E. Cerebrovascular accident in β-thalassemia major (β -TM) and β -thalassemia intermedia (β -TI). Am J Hematol. 2008;83:77–79.
   PubMed Web of Science ®Google Scholar
• Karimi M, Haghpanah S, Bagheri MH, Frequency and distribution of asymptomatic brain lesions in patients with β-thalassemia intermedia. Ann Hematol. 2012;91(12):1833–1838.
   PubMed Web of Science ®Google Scholar
• Karimi M, Borzouee M, Mehrabani A, Cohan N. Echocardiographic finding in beta-thalassemia intermedia and major: absence of pulmonary hypertension following hydroxyurea treatment in beta-thalassemia intermedia. Eur J Haematol. 2009;82(3):213–218.
   PubMed Web of Science ®Google Scholar
• Amoozgar H, Farhani N, Karimi M. Risk factors for pulmonary hypertension in patients with thalassemia intermedia. Eur J Haematol. 2011;85:549–551.
   Web of Science ®Google Scholar
• Karimi M, Musallam KM, Cappellini MD, Risk factors for pulmonary hypertension in patients with β thalassemia intermedia. Eur J Intern Med. 2011;22(6):607–610.
   PubMed Web of Science ®Google Scholar
• Gladwin MT, Vichinsky E. Pulmonary complications of sickle cell disease. N Engl J Med. 2008;359:2254–2265.
   PubMed Web of Science ®Google Scholar
• Gladwin MT, Lancaster JR Jr, Freeman BA, Schechter AN. Nitric oxide's reactions with hemoglobin: a view through the SNO-storm. Nat Med. 2003;9:496–500.
   PubMed Web of Science ®Google Scholar
• Aessopos A, Farmakis D, Tsironi M, Endothelial function and arterial stiffness in sickle-thalassemia patients. Atherosclerosis. 2007;191:427–432.
   PubMed Web of Science ®Google Scholar
• De Sanctis V, Tangerini A, Testa MR, Final height and endocrine function in thalassemia intermedia. J Pediatr Endocrinol Metab. 1998;11(Suppl 3):965–971.
   PubMedGoogle Scholar
• Harmatz P, Jonas MM, Kwiatkowski JL, Safety and efficacy of pegylated interferon a-2a and ribavirin for the treatment of hepatitis C in patients with thalassemia. Haematologica. 2008;93:1247–1251.
   PubMed Web of Science ®Google Scholar
• Restivo Pantalone G, Renda D, Valenza F, Hepatocellular carcinoma in patients with thalassaemia syndromes: clinical characteristics and outcome in a long term single centre experience. Br J Haematol. 2010;(150):245–247.
   PubMedGoogle Scholar
• Mancuso A, Sciarrino E, Renda MC, Maggio A. A prospective study of hepatocellular carcinoma incidence in thalassemia. Hemoglobin. 2006;30:119–124.
   PubMed Web of Science ®Google Scholar
• Gamberini MR1, Fortini M, De Sanctis V. Healing of leg ulcers with hydroxyurea in thalassaemia intermedia patients with associated endocrine complications. Pediatr Endocrinol Rev. 2004;(Suppl 2):319–322.
   PubMedGoogle Scholar
• Matta BN, Abbas O, Maakaron JE, Leg ulcers in patients with β-thalassaemia intermedia: a single centre's experience. J Eur Acad Dermatol Venereol. 2013; [Epub ahead of print].
   PubMed Web of Science ®Google Scholar
• Derakhshan A, Karimi M, Moghaddam AG. Comparative evaluation of renal finding in beta-thalassemia major and intermedia. Saudi J Kidney Dis Transpl. 2008;19(2):206–209.
   PubMedGoogle Scholar
• Karimi M, Nikrooz P, Kashef S, RBC alloimmunization in blood transfusion-dependent beta-thalassemia patients in southern Iran. Int J Lab Hematol. 2007;29(5):321–326.
   PubMed Web of Science ®Google Scholar
• Spanos T, Karageorga M, Ladis V, Red cell alloantibodies in patients with thalassemia. Vox Sang. 1990;58:50–55.
   PubMed Web of Science ®Google Scholar
• Taher AT, Porter JB, Viprakasit V, Deferasirox effectively reduces iron overload in non-transfusion-dependent thalassemia (NTDT) patients: 1-year extension results from the THALASSA study. Ann Hematol. 2013;92(11):1485–1493.
   PubMed Web of Science ®Google Scholar
• Musallam KM, Cappellini MD, Wood JC, Elevated liver iron concentration is a marker of increased morbidity in patients with beta thalassemia intermedia. Haematologica 2011; 96(11): 1605–1612.
   PubMed Web of Science ®Google Scholar
• Wood JC, Enriquez C, Ghugre N, MRI R2 and R2* mapping accurately estimates hepatic iron concentration in transfusion-dependent thalassemia and sickle cell disease patients. Blood. 2005;106(4):1460–1465.
   PubMed Web of Science ®Google Scholar
• Pierre TG, Clark PR, Chua-anusorn W, Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance. Blood. 2005;105:855–861.
   PubMed Web of Science ®Google Scholar
• Cappellini MD. Overcoming the challenge of patient compliance with iron chelation therapy. Sem in Hematol. 2005;42:S19–S21.
   Web of Science ®Google Scholar
• Voskaridou E, Plata E, Douskou M, Treatment with deferasirox (Exjade) effectively decreases iron burden in patients with thalassaemia intermedia: results of a pilot study. Brit J Haematol. 2010;148:332–334.
   PubMed Web of Science ®Google Scholar
• Haghpanah S, Zarei T, Zahedi Z, Karimi M. Compliance and satisfaction with deferasirox (Exjade®) compared with deferoxamine in patients with transfusion-dependent beta-thalassemia. Hematology. 2014;19:187–189.
   PubMed Web of Science ®Google Scholar
• Karimi M, Darzi H, Yavarian M. Hematologic and clinical responses of thalassemia intermedia patients to hydroxyurea during 6 years of therapy in Iran. J Ped Hematol Oncol. 2005;27:380–385.
   PubMed Web of Science ®Google Scholar
• Dixit A, Chatterjee TC, Mishra P, Hydroxyurea in thalassemia intermedia–a promising therapy. Ann Hematol. 2005;84:441–446.
   PubMed Web of Science ®Google Scholar
• Karimi M, Mohammadi F, Behmanesh F, Effect of combination therapy of hydroxyurea with l-carnitine and magnesium chloride on hematologic parameters and cardiac function of patients with beta-thalassemia intermedia. Eur J Haematol. 2010; 84: 52–58.
   PubMed Web of Science ®Google Scholar
• Karimi M, Cohan N, Moosavizadeh K, Adverse effects of hydroxyurea in β-thalassemia intermedia patients: 10 years’ experience. Ped Hematol Oncol. 2010;27:205–211.
   PubMed Web of Science ®Google Scholar
• Karimi M, Haghpanah S, Farhadi A, Yavarian M. Genotype-phenotype relationship of patients with β-thalassemia taking hydroxyurea: a 13-year experience in Iran. Int J Hematol. 2012;95(1):51–56.
   PubMed Web of Science ®Google Scholar
• Karimi M, Zekavat OR, Haghpanah S, Comparative study of hypogonadism in beta-thalassemia intermedia patients with and without hydroxyurea. Hematology. 2012;17(2):122–124.
   PubMed Web of Science ®Google Scholar
• Rachmilewitz EA, Aker M. The role of recombinant human erythropoietin in the treatment of thalassemia. Ann N Y Acad Sci. 1998;850:129–138.
   PubMed Web of Science ®Google Scholar
• Elalfy MS, Adly AA, Ismail EA, Therapeutic superiority and safety of combined hydroxyurea with recombinant human erythropoietin over hydroxyurea in young β-thalassemia intermedia patients. Eur J Haematol. 2013;91:522–533.
   PubMed Web of Science ®Google Scholar
• Cappellini MD, Robbiolo L, Bottasso BM, Venous thromboembolism and hypercoagulability in splenectomized patients with thalassaemia intermedia. Br J Haematol. 2000;111:467–473.
   PubMed Web of Science ®Google Scholar
• Atichartakarn V, Likittanasombat K, Chuncharunee S, Pulmonary arterial hypertension in previously splenectomized patients with beta-thalassemic disorders. Int J Hematol. 2003;78:139–145.
   PubMed Web of Science ®Google Scholar
• Cadili A, de Gara C. Complications of splenectomy. Am J of Med. 2008;121:371–375.
   PubMed Web of Science ®Google Scholar
• Taher AT, Musallam KM, Karimi M, Cappellini MD. Contemporary approaches to treatment of beta-thalassemia intermedia. Blood Rev. 2012; 26(Suppl 1):S24–S27.
   PubMed Web of Science ®Google Scholar
• Musallam KM, Khoury B, Abi-Habib R, Health-related quality of life in adults with transfusion-independent thalassaemia intermedia compared to regularly transfused thalassaemia major: new insights. Eur J Hematol. 2011;87:73–79.
   PubMed Web of Science ®Google Scholar
• Pakbaz Z, Treadwell M, Yamashita R, Quality of life in patients with thalassemia intermedia compared to thalassemia major. Ann N Y Acad Sci. 2005;1054:457–461.
   PubMed Web of Science ®Google Scholar