Overview
The β-thalassemias are a group of inherited disorders of hemoglobin (Hb) synthesis characterized by chronic anemia of varying severity. The degree of anemia relies on several genetic and environmental factors and determines the need for regular transfusion therapy. It is now common practice to classify patients as having transfusion dependent β-thalassemia (TDT) or non-transfusion-dependent β-thalassemia (NTDT). Regarding geographical distribution of β-thalassemia, it prevails more in countries on the Mediterranean, South east of Asia and in the east of Europe. In Egypt, it is the most common cause of chronic blood loss: One thousand cases are recorded annually for every 1.5 million live births the disease prevalence is equal to1000 cases per 1.5 million live births (Ghazala et al., 2021).
The only curative treatment for thalassemia currently is a bone marrow transplant. However, it is restricted to only a few patients due to the non-availability of an HLA-matched donor and high cost. Thus, most patients receive regular blood transfusions accompanied by iron chelation therapy (ICT) as the standard of care. The ideal management of a patient with transfusion-dependent thalassemia (TDT) requires a multidisciplinary therapeutic approach. The main iron chelating agents include deferoxamine (DFO), deferiprone (DFP), and deferasirox (DFX). Due to poor oral bioavailibility, DFO is the only chelator that must be administered subcutaneously or intravenously up to once a day; DFP and DFX may be administered orally up to three times a day. The known side effects associated with each chelator include infusion reactions in DFO, gastrointestinal distress, agranulocytosis in DFP, and transaminitis in DFP and DFX.
Eligibility
Inclusion Criteria:
- confirmed diagnosis of beta thalassemia major or intermedia,
- Age between 2-18 years,
- Receiving regular blood transfusions every 2-5 weeks
- Prescribed oral iron chelation therapy with deferasirox for at least 1 year prior to enrollment.
Exclusion Criteria:
- Age less than 2 years and more than 18 years
- Any cause of blood transfusion other than beta Thalassemia
- Patients on deferoxamine