Current Standards of Care and Long Term Outcomes for Thalassemia and Sickle Cell Disease

Overview

Journal Adv Exp Med Biol

Specialties Biology
General Medicine

Date 2017 Nov 12

PMID 29127677

Citations 13

Authors

Satheesh Chonat

Charles T Quinn

Affiliations

Soon will be listed here.

Abstract

Thalassemia and sickle cell disease (SCD) are disorders of hemoglobin that affect millions of people worldwide. The carrier states for these diseases arose as common, balanced polymorphisms during human history because they afforded protection against severe forms of malaria. These complex, multisystem diseases are reviewed here with a focus on current standards of clinical management and recent research findings. The importance of a comprehensive, multidisciplinary and lifelong system of care is also emphasized.

Citing Articles

The Investigation of Hearing Loss in Patients with Thalassemia Major Referred to Hazrat Ali Asghar (AS) Hospital in Sistan and Baluchistan Province (Iran).

Khavidaki G, Gharibi R, Naderi M, Sedaghatkia H Maedica (Bucur). 2025; 19(4):731-735.

PMID: 39974446 PMC: 11834841. DOI: 10.26574/maedica.2024.19.4.731.

Comparison of Asymptomatic Brain Lesions Between Thalassemia Major and Sickle Cell Anemia Patients.

Demiray D, Eris Davut O, Oktay G Medicina (Kaunas). 2025; 61(1).

PMID: 39859141 PMC: 11766708. DOI: 10.3390/medicina61010159.

Gene therapies for sickle cell disease: Effectiveness and value.

Nikitin D, Beaudoin F, Thokala P, McKenna A, Nhan E, Rind D J Manag Care Spec Pharm. 2023; 29(11):1253-1259.

PMID: 37889869 PMC: 10609928. DOI: 10.18553/jmcp.2023.29.11.1253.

The Effect of Long-Term Iron Chelator Therapy on Serum Levels of Hepcidin and Ferritin in Patients with Thalassemia Major and Intermediate.

Eshagh Hossaini S, Haeri M, Seif F Indian J Hematol Blood Transfus. 2022; 38(4):750-753.

PMID: 36258735 PMC: 9569257. DOI: 10.1007/s12288-022-01533-1.

Prevalence and specificity of red blood cell alloantibodies and autoantibodies in transfused Iranian β-thalassemia patients: A systematic review and meta-analysis.

Rostamian H, Javandoost E, Mohammadian M, Alipour A Asian J Transfus Sci. 2022; 16(1):111-120.

PMID: 36199396 PMC: 9528548. DOI: 10.4103/ajts.AJTS_39_20.

References

Smith-Whitley K . Reproductive issues in sickle cell disease. Blood. 2014; 124(24):3538-43. DOI: 10.1182/blood-2014-07-577619. View

Voon H, Vadolas J . Controlling alpha-globin: a review of alpha-globin expression and its impact on beta-thalassemia. Haematologica. 2008; 93(12):1868-76. DOI: 10.3324/haematol.13490. View

Smith K, Patterson C, Szabo M, Tarazi R, Barakat L . Predictors of Academic Achievement for School Age Children with Sickle Cell Disease. Adv Sch Ment Health Promot. 2013; 6(1):5-20. PMC: 3583364. DOI: 10.1080/1754730X.2012.760919. View

Cunningham M, Macklin E, Neufeld E, Cohen A . Complications of beta-thalassemia major in North America. Blood. 2004; 104(1):34-9. DOI: 10.1182/blood-2003-09-3167. View

Musallam K, Taher A, Cappellini M, Sankaran V . Clinical experience with fetal hemoglobin induction therapy in patients with β-thalassemia. Blood. 2013; 121(12):2199-212. DOI: 10.1182/blood-2012-10-408021. View

Falletta J, Woods G, Verter J, Buchanan G, Pegelow C, Iyer R . Discontinuing penicillin prophylaxis in children with sickle cell anemia. Prophylactic Penicillin Study II. J Pediatr. 1995; 127(5):685-90. DOI: 10.1016/s0022-3476(95)70154-0. View

Ley T, DESIMONE J, Anagnou N, Keller G, Humphries R, Turner P . 5-azacytidine selectively increases gamma-globin synthesis in a patient with beta+ thalassemia. N Engl J Med. 1982; 307(24):1469-75. DOI: 10.1056/NEJM198212093072401. View

Yawn B, Buchanan G, Afenyi-Annan A, Ballas S, Hassell K, James A . Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members. JAMA. 2014; 312(10):1033-48. DOI: 10.1001/jama.2014.10517. View

Vento S, Cainelli F, Cesario F . Infections and thalassaemia. Lancet Infect Dis. 2006; 6(4):226-33. DOI: 10.1016/S1473-3099(06)70437-6. View

10.

Telfer P, Coen P, Chakravorty S, Wilkey O, Evans J, Newell H . Clinical outcomes in children with sickle cell disease living in England: a neonatal cohort in East London. Haematologica. 2007; 92(7):905-12. DOI: 10.3324/haematol.10937. View

11.

Perrine S, Ginder G, Faller D, Dover G, Ikuta T, Witkowska H . A short-term trial of butyrate to stimulate fetal-globin-gene expression in the beta-globin disorders. N Engl J Med. 1993; 328(2):81-6. DOI: 10.1056/NEJM199301143280202. View

12.

Karimi M, Cohan N, De Sanctis V, Mallat N, Taher A . Guidelines for diagnosis and management of Beta-thalassemia intermedia. Pediatr Hematol Oncol. 2014; 31(7):583-96. DOI: 10.3109/08880018.2014.937884. View

13.

Weatherall D . Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet. 2001; 2(4):245-55. DOI: 10.1038/35066048. View

14.

Fu T, Corrigan N, Quinn C, Rogers Z, Buchanan G . Minor elective surgical procedures using general anesthesia in children with sickle cell anemia without pre-operative blood transfusion. Pediatr Blood Cancer. 2005; 45(1):43-7. DOI: 10.1002/pbc.20283. View

15.

Lane P, OConnell J, Lear J, Rogers Z, Woods G, Hassell K . Functional asplenia in hemoglobin SC disease. Blood. 1995; 85(8):2238-44. View

16.

Platt O, Orkin S, Dover G, Beardsley G, Miller B, Nathan D . Hydroxyurea enhances fetal hemoglobin production in sickle cell anemia. J Clin Invest. 1984; 74(2):652-6. PMC: 370519. DOI: 10.1172/JCI111464. View

17.

Inati A, Kahale M, Perrine S, Chui D, Taher A, Koussa S . A phase 2 study of HQK-1001, an oral fetal haemoglobin inducer, in β-thalassaemia intermedia. Br J Haematol. 2013; 164(3):456-8. PMC: 3904791. DOI: 10.1111/bjh.12635. View

18.

Karimi M, Musallam K, Cappellini M, Daar S, El-Beshlawy A, Belhoul K . Risk factors for pulmonary hypertension in patients with β thalassemia intermedia. Eur J Intern Med. 2011; 22(6):607-10. DOI: 10.1016/j.ejim.2011.05.013. View

19.

Herrick J . Peculiar elongated and sickle-shaped red blood corpuscles in a case of severe anemia. 1910. Yale J Biol Med. 2001; 74(3):179-84. PMC: 2588723. View

20.

Hulbert M, Scothorn D, Panepinto J, Scott J, Buchanan G, Sarnaik S . Exchange blood transfusion compared with simple transfusion for first overt stroke is associated with a lower risk of subsequent stroke: a retrospective cohort study of 137 children with sickle cell anemia. J Pediatr. 2006; 149(5):710-2. DOI: 10.1016/j.jpeds.2006.06.037. View