Abstract Ref Number = APCP112
Thalassemia: Advance Strategies in Preventing Complications
Pustika Amalia Wahidiyat
Pediatric HematologyOncology Division, Department of Child Health, Faculty of Medicine Universitas Indonesia CiptoMangunkusumo Hospital
Thalassemia is a common single gene disorder, characterized by decreased or absent in synthesis of α- or β-globin chains. Eijkman Institute have detected 43 types of β-mutation and 37 types of α-mutation in Indonesian populations.As a country with many races, the prevalence of carrier in Indonesia is various, it ranges from 1-8% for β-thalassemia and 1-33% for HbE.
As a chronic disease, thalassemia affects all aspect of the patient’s life, including physical, mental, economic, and social. Adequate management is important to prevent these complications. Currently, there are 6 main treatments for TM: blood transfusion, iron chelation therapy, psychosocial support, regular complication-related organs evaluation, bone marrow transplantation, and gene therapy. However, the last two treatments are still limited in Indonesia due to lack of human resources, technology, and high cost.
Blood transfusion is mandatory for TM patients. It counters anemia, whilst also suppress erythropoiesis in other compartment outside bone marrow. As for long term, routine blood transfusion is important to improve growth and development. Thalassemia International Federation (TIF), in accordance with PHTDI guidelines, recommends that frequency of transfusion for thalassemia patients should be personalized to maintain pre-transfusion hemoglobin level above 9-10.5 g/dL and target hemoglobin level of 12-13 g/dL.The guideline also recommends the using of leukoreduced packed red blood cells (PRC) for eliminating adverse transfusion reactionwith maximum 1x106 leucocytes per unit, PRC with pre-storage filtration is preferable than post-storage filtration, and if possible should be added by bedside filtration.Another problem related with transfusion in thalassemia patients is transmittable infection. Nucleic acid test (NAT) screening is a highly sensitive and specific technique to detect particular nucleic acid, virus, or bacteria.
In Thalassemia Center Cipto Mangunkusumo Hospital, NAT screening is mandatory since 2010.Compared to older patients who get transfused before 2010, there areonly few patients younger than 8 years have positive serum marker of hepatitis B (22 patients), hepatitis C (1 patients), or HIV (0 patients). Leukoreduced PRC has been used since 2015 and bedside filter had been made free in our thalassemia center since late 2016. Since then, the rate of reaction transfusion has decreased significantly.
With proper transfusion regiment, we had seen less incidence of splenomegaly, resulting in reduced number of indicated splenectomy, which are no longer recommended. Surprisingly, we had also seen reduction in spleen size in patients with hyper-transfusion regiment (target pre-transfusion Hb level of 11-13 mg/dL).
Currently, all iron chelation (DFP, DFO, DFX) is available throughout Indonesia with DFP being the most commonly used in our center. Iron chelation therapy are included inside the National Health Insurance; which means all thalassemia patients in Indonesia theoretically have access to iron chelation. We have been able to properly treat patients with proper regiment of iron chelation as combination or monotherapy.
Compliance, however, have been quite dubious; with several patients showing high adherence towards oral iron chelation and other showing no changes in compliance with both subcutaneous or oral iron chelation. Increase in patient’s knowledge regarding the importance or iron chelation seems to be the main point that may increase compliance.
With increase in survival rate of thalassemia patients, needs upon monitoring and management of complications become increasingly important. The pediatric hematology division throughout the years had work even closer with adult hematology division from the internal medicine department since many of our patients survived and stepped into adulthood. This interdepartmental cooperation helps ensure that holistic management of complication and proper management are met in all of our patients.With availabilities of modern modalities, such as the T2* MRI, monitoring and control of thalassemia’s complication had significantly improved.There were low number of severe cardiac hemosiderosis (2.2%) and incidence of impaired glucose tolerance (2%) in our patients. It is important to remember that thalassemia management should be personalized based on each individual.
Our thalassemia center had also sought international cooperation with thalassemia center in other countries; one of them is to build a transplant unit with thalassemia centers from Thailand. As of today, we have sent nearly 20 patients to Thailand for bone marrow transplants and all of them had come back with satisfactory results. Other than medical cooperation, advocation towards the government had also been keys towards prevention and promotion of thalassemia to the general public. Recently a meeting with the vice-governor of Jakarta had shown promising results with the creations of mandatory pre-marital health screening for couples in DKI Jakarta. We had also actively approached the Ministry of Health to include thalassemia screening as part of the National Health Insurance with the reasoning that prevention of the disease is more efficient compared to treating it. As of currently we had only been able to conduct thalassemia screening to our own medical students and families of our thalassemia patients. Through continuous advocation and cooperation with other parties such as NGOs and Thalassemia Foundations around Indonesia, hopefully we are able to push down number of new thalassemia patients for years to come.