Beta-thalassemia medical therapy
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Maryam Hadipour, M.D.[2]
Overview
The mainstay of treatment for beta-thalassemia major is blood transfusion. Chelation therapy is also required to manage iron overload resulting from repeated transfusions. In less severe cases, folic acid supplementation may be recommended to support red blood cell production. Bone marrow transplantation is the only cure for thalassemia, and is indicated for patients with severe thalassemia major. Untreated thalassemia major eventually leads to death, usually by heart failure; therefore, birth screening is very important.
In beta-thalassemia minor, a serum ferritin test can determine what their iron levels are and guide them to further treatment if necessary.
Medical Therapy
Anyone with thalassemia should consult a properly qualified hematologist.
Thalassemias may co-exist with other deficiencies such as folic acid (or folate, a B-complex vitamin) and iron deficiency (only in Thalassemia Minor).
Thalassemia Major and Intermedia
- Thalassemia Major patients receive frequent blood transfusions that lead to iron overload. Iron chelation treatment is necessary to prevent iron overload damage to the internal organs in patients with Thalassemia Major. Because of recent advances in iron chelation treatments, patients with Thalassemia Major can live long lives if they have access to proper treatment. Popular chelators include deferoxamine and deferiprone. Of the two, deferoxamine is preferred; it is more effective and is associated with fewer side-effects.[1][2][3].
- The most common complaint by patients receiving deferoxamine is that it is difficult to comply with the subcutaneous chelation treatments because they are painful and inconvenient. The oral chelator deferasirox (marketed as Exjade by Novartis) was approved for use in 2005 in some countries. It offers some hope with compliance but is very expensive (~US$100 per day) and has been associated with deaths from toxicity.
- Bone marrow transplantation is the only cure for thalassemia, and is indicated for patients with severe thalassemia major. Transplantation can eliminate a patient's dependence on transfusions.
- The major successful bone marrow transplantation was finished in the 1980s. Results show a 3% death rate and an 87% thalassemia-free survival rate in young patients. However, BMT has certain drawbacks, including the need for a suitable donor who matches the patient's human leukocyte antigen.
- The death rate is 7%, the rejection rate is 23%, and the thalassemia-free survival rate is 70% for very young patients.
- For certain Indian individuals with thalassemia, bone marrow transplantation is still not an option[4][5].
- All Thalassemia patients are susceptible to health complications that involve the spleen (which is often enlarged and frequently removed) and gall stones. These complications are mostly prevalent to thalassemia Major and Intermedia patients.
- As a result of acute hemolysis, overactivity of the spleen develops in thalassemia major and thalassemia intermedia. After starting a regular blood transfusion, splenomegaly at a young age may be avoided. However, children between the ages of 5 and 10 can develop hypersplenism. By reducing the need for transfusions, raising Hb levels, and reducing iron buildup, splenectomy protects patients from ill health and growth retardation[6]
- Thalassemia Intermedia patients vary a lot in their treatment needs depending on the severity of their anemia.
- Untreated thalassemia Major eventually leads to death usually by heart failure, therefore birth screening is very important.
Thalassemia Minor
Contrary to popular belief, Thalassemia Minor patients should not avoid iron-rich foods by default. A serum ferritin test can determine what their iron levels are and guide them to further treatment if necessary. Thalassemia Minor, although not life threatening on its own, can affect quality of life due to the effects of a mild to moderate anemia. Studies have shown that Thalassemia Minor often coexists with other diseases such as asthma[7], and mood disorders[8].
References
- ↑ Maggio A, D'Amico G; et al. (2002). "Deferiprone versus deferoxamine in patients with thalassemia major: a randomized clinical trial". Blood Cells Mol Dis. 28 (2): 196–208. doi:10.1006/bcmd.2002.0510. PMID 12064916.
- ↑ Khandros E, Kwiatkowski JL (June 2019). "Beta Thalassemia: Monitoring and New Treatment Approaches". Hematol Oncol Clin North Am. 33 (3): 339–353. doi:10.1016/j.hoc.2019.01.003. PMID 31030806.
- ↑ Ali S, Mumtaz S, Shakir HA, Khan M, Tahir HM, Mumtaz S, Mughal TA, Hassan A, Kazmi S, Sadia, Irfan M, Khan MA (December 2021). "Current status of beta-thalassemia and its treatment strategies". Mol Genet Genomic Med. 9 (12): e1788. doi:10.1002/mgg3.1788. PMC 8683628 Check
|pmc=value (help). PMID 34738740 Check|pmid=value (help). Vancouver style error: initials (help) - ↑ Rivière I, Dunbar CE, Sadelain M (February 2012). "Hematopoietic stem cell engineering at a crossroads". Blood. 119 (5): 1107–16. doi:10.1182/blood-2011-09-349993. PMC 3277348. PMID 22096239.
- ↑ Majolino I, Othman D, Rovelli A, Hassan D, Rasool L, Vacca M, Abdalrahman N, Abdullah C, Ahmed Z, Ali D, Ali K, Broggi C, Calabretta C, Canesi M, Ciabatti G, Del Fante C, De Sapio E, Dore G, Frigato A, Gabriel M, Ipsevich F, Kareem H, Karim D, Leone R, Mahmood T, Manna A, Massei MS, Mastria A, Mohammed D, Mohammed R, Najmaddin K, Noori D, Ostuni A, Palmas A, Possenti M, Qadir A, Real G, Shrif R, Valdatta C, Vasta S, Verna M, Vittori M, Yousif A, Zallio F, Calisti A, Quattrocchi S, Girmenia C (2017). "The Start-Up of the first Hematopoietic Stem Cell Transplantation Center in the Iraqi Kurdistan: a Capacity-Building Cooperative Project by the Hiwa Cancer Hospital, Sulaymaniyah, and the Italian Agency for Development Cooperation: an Innovative Approach". Mediterr J Hematol Infect Dis. 9 (1): e2017031. doi:10.4084/MJHID.2017.031. PMC 5419198. PMID 28512560.
- ↑ 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 (February 2005). "High incidence of thrombosis of the portal venous system after laparoscopic splenectomy: a prospective study with contrast-enhanced CT scan". Ann Surg. 241 (2): 208–16. doi:10.1097/01.sla.0000151794.28392.a6. PMC 1356904. PMID 15650628.
- ↑ Palma-Carlos AG, Palma-Carlos ML, Costa AC (2005). ""Minor" hemoglobinopathies: a risk factor for asthma". Allerg Immunol (Paris). 3 (5): 177–82. PMID 15984316.
- ↑ Brodie BB (2005). "Heterozygous β-thalassaemia as a susceptibility factor in mood disorders: excessive prevalence in bipolar patients". Clin Pract Epidemiol Mental Health. 1: 6. doi:10.1186/1745-0179-1-6. PMC 1156923. PMID 15967056.