Journal of American Science 2012;8(7) http://www.jofamericanscience.org http://www.americanscience.org editor@americanscience.org 633 Ocular Manifestations in Children with Β Thalassemia Major and Visual Toxicity of Iron Chelating Agents Dalia S. M. Abdel-Malak 1 ; Ola A. E. Dabbous 2 ; Mohamed Y. S. Saif 3 and Ahmed T. Sayed Saif 4 1 Department of Pediatrics, Faculty Medicine, Beni-Sueif University 2 Department of Pediatrics, National Institute of Laser Enhanced Sciences (NILES) – Cairo University 3 Department of Ophthalmology, Faculty of Medicine, Beni-Sueif University 4 Department of Ophthalmology, Faculty of Medicine, Fayoum University daliasabermorgan@yahoo.com , dalia.abdelmalak@med.bsu.edu.eg Abstract: Objectives: This study was planned to determine the prevalence of ocular manifestations in multiple transfused β Thalassemia major patients and to determine the association of these manifestations with 2 types of iron chelating agents. Materials and methods: Cross sectional study included 80 β Thalassemia major patients, these patients were divided into 3 groups based on Thalassemia treatment regimens received at time of presentation. Full medical history, thorough physical examinations were done to all patients groups, and ophthalmological examination to determine the prevalence of ocular manifestations for all patient groups and to correlate these manifestations or changes with iron chelating agents. Results: In eighty patients (46males, 34 females) with age ranging between 6 to 16 years, ocular involvements were detected in 85% of cases in the form of lens opacity (10%) (more in patients receiving Desferrioxamine), decreased visual acuity(45%), retinal pigment epithelium (RPE) mottling (25%), disc hyperemia(12.5%) and increased cup/disc ratio (37.5%) and these involvements were observed to be more in younger age. Conclusion: Most of the ocular changes of beta Thalassemia are attributed to the course and severity of the disease. Reduction in serum iron and serum Ferritin levels by iron- chelating agents and regular ocular examination to look for side-effects of such agents can aid in preventing or delaying ocular complications. [Dalia S. M. Abdel-Malak; Ola A. E. Dabbous; Mohamed Y. S. Saif and Ahmed T. Sayed Saif. Ocular Manifestations in Children with Β Thalassemia Major and Visual Toxicity of Iron Chelating Agents. J Am Sci 2012;8(7):633- 638]. (ISSN: 1545-1003). http://www.jofamericanscience.org . 96 Keywords: β Thalassemia, ocular, children, iron chelating agent. 1. Introduction Thalassemia is the most common single gene disorder worldwide (1). Mutations involving the beta globin gene in β Thalassemia cause disruption in red cell maturation leading to ineffective erythropoiesis and multi-system involvement (2). Blood transfusions therapy on continuing bases represent the primary treatment for β Thalassemia (3). Although these treatments alleviates anemia, they lead to massive tissue deposition of iron and may eventually results in multi organ dysfunction. With advances in chelating iron the life expectancy has improved significantly but several side effects have emerged (4). Adverse ocular changes resulting of the disease itself or as side effects of the iron chelating agents include: Cataract, pigmentary retinopathy, optic neuropathy, thinning and tortuosity of retinal vessels and vitroretinal hemorrhages (5). Iron chelating agents such as Desferrioxamine and Deferriprone which are used to avoid systemic complications of siderosis may cause chelating of other metals such as Copper, Zinc, Nickel and Cobalt which are essential for normal retinal function thus causing several ocular abnormalities (6). This study was conducted to access the prevalence of ocular manifestations in β Thalassemic Egyptian children on regular blood transfusion and to access the ocular side effects of iron chelating agents. 2. Materials and Methods This study was conducted in the Hematology clinic in Beni-Sueif University Hospital and the Pediatric outpatient clinic in National Institute of Laser Enhanced Sciences (NILES). Eighty children diagnosed as β Thalassemia major patients were enrolled in the study. All children enrolled have been receiving treatment in the form of packed red cell transfusion at a dose of 10 ml/kg b.wt./transfusion in order to maintain their hemoglobin concentration between 9 – 11 gm/dl and iron chelating agents were started if the serum Ferritin level was above 1000 ug/dl. An informed consent for participation was obtained. Patients with Hemoglobin disorders other than β Thalassemia major were excluded, also patients with any congenital ocular abnormalities were excluded. The patients were divided into 3 groups based on Thalassemia treatment regimens received at time of presentation. Group A: received blood transfusion but no iron chelating therapy. Group B: A combination regimen of blood transfusion and Desferrioxamine. Group C: combination regimen of blood transfusion and oral Deferriprone. All the patients in this study were subjected to the following: