A one-year-old child presented with failure to thrive and paleness was diagnosed with thalassemia. The child required regular blood transfusions to treat anemia symptoms from the condition. As the child grew older, she developed complications from iron overload due to the frequent transfusions, including pain in her abdomen. Her parents inquired about stem cell transplantation but a donor could not be found, so she was placed on medication to treat the iron overload and manage the thalassemia long-term through continued hypertransfusion therapy.

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

7. beta
A
delta
A2
alpha

9. beta thalassemia
beta
A
gamma
F
delta
A2
alpha

10. alpha thalassemia
alpha
beta
A
delta
A2

11. Pathophysiology of thalassemia
• Decrease globin synthesis
• Excess globin chain
• Ineffective erythropoiesis
• Hemolysis

12. • She is diagnosed with thalassemia.
• Hb typing : E 77% F 23%
• Hemoglobinopathy and thalassemia

13. Hemoglobin E
beta
alpha
beta E
E
A
beta E
E
alpha

14. beta thalassemia/ Hemoglobin E
beta
beta E
alpha
F
E

15. • Another boy in the thalassemia clinic has
different profile. He is sick and pale only whe
he has fever.
• Difference in severity of thalassemia’s
• Benefits of splenectomy

16. • The girl’s parents ask you if they can have
another child.
• Possibility of having another thalassemia
baby.

17. • She is transfused 3-4 times a year due to her
anemic symptoms.
• Types of transfusion program
• Risks during transfusion

18. • 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

19. • Stem cell donor cannot be found.
• She is put on hypertransfusion program.
• Risk and sequale of iron overload

20. Iron overload
• When to consider
• How to diagnose
• How to treat
• How to give advice

21. Comparison of iron chelators
Deferoxamine
Deferiprone
Deferasirox
Oral route



Half life






Toxicities
Intracellular
chelation

22. • 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

23. Other complications from thalassemia
• Gallstone
• Venous thromboembolism and
hypercoagulable state
• Transfusion complication
– Post transfusion hypertension
– Transfusion reaction

24. • http://goo.gl/kGkf1B
• http://www.slideshare.net/uartit/a-life-of-athalassemia-patient-1