1. A life of a thalassemia patient

2. A one-year-old child presented to you with failure to thrive, poor performance. PE revealed that she is pale and icteric. Diagnosis of thalassemia Epigenetics 3. betaAdeltaA2alpha 4. beta thalassemiabetaAgammaFdeltaA2alpha 5. alpha thalassemiaalpha betaAdeltaA2 6. Pathophysiology of thalassemia Decrease globin synthesis Excess globin chain Ineffective erythropoiesis Hemolysis 7. She is diagnosed with thalassemia. Hb typing : E 77% F 23% Hemoglobinopathy and thalassemia 8. Hemoglobin Ebetaalphabeta EEAbeta EEalpha 9. beta thalassemia/ Hemoglobin E betabeta E alphaFE 10. Another boy in the thalassemia clinic has different profile. He is sick and pale only whe he has fever. Difference in severity of thalassemias Benefits of splenectomy 11. The girls parents ask you if they can have another child. Possibility of having another thalassemia baby. 12. She is transfused 3-4 times a year due to her anemic symptoms. Types of transfusion program Risks during transfusion 13. The parents decided that they will not have more babies, and asked for your opinion about stem cell transplantation. Risk classification in stem cell transplantation Stem cell donor sources Cost effectiveness of stem cell transplantation in thalassemia 14. Stem cell donor cannot be found. She is put on hypertransfusion program. Risk and sequale of iron overload 15. Iron overload When to consider How to diagnose How to treat How to give advice 16. Comparison of iron chelators DeferoxamineDeferiproneDeferasiroxOral routeHalf lifeToxicities Intracellular chelation 17. She did not received stem cell transplantation. At the age of 20, she began to experience recurrent pain in her RUQ of abdomen. Others life events 18. Other complications from thalassemia Gallstone Venous thromboembolism and hypercoagulable state Transfusion complication Post transfusion hypertension Transfusion reaction 19. http://goo.gl/kGkf1B http://www.slideshare.net/uartit/a-life-of-athalassemia-patient-1