1. PRACTICE TEACHING ON THALASSEMIA

2. INTRODUCTION O Inherited blood disorder O an abnormal form of hemoglobin due to a defect through a genetic mutation or deletion. O Results in excessive destruction of red blood cells, which leads to anemia.

3. Definition:- O Thallesemia describes a group of inherited disorders characterized by reduced or absent amount of hemoglobin, the oxygen –carrying protien inside the red blood cells.

4. Types Of Thalassemia O Two types: O Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or mutated. O Beta thalassemia occurs when gene defects affect production of the beta globin protein.

5. Conti… Alpha Subunit Chromosome 164 genes Beta Subunit Chromosome 11 2 genes

10. Beta thalassemia

12. Pathophysiology Disturbance of ratio between Alpha & non alpha globin chain synthesis then absent or decrease production of one or more globin chains Formation of abnormal Hb structures

13. Conti... Ineffective erythropoiesis Excessive RBCs Destruction Iron Overload Extra-medullary hematopoiesis O

14. Symptoms Severe type symptoms include: O Fatigue and weakness O Jaundice O Growth Failure O Increased heart rate (Tachycardia) Infants with severe type die before or soon after birth.

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17. Diagnostic evaluation of Thalassemia O Blood Test: Complete Blood Count O Haemoglobin Test O A CBC - amount of hemoglobin and red blood cells, in a sample of blood. O Male: 4.7 to 6.1 million cells/uL; Female: 4.2 to 5.4 million cells/uL. O Hemoglobin tests- types of hemoglobin

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19. Conti… O Family genetic studies also help in making a thalassemia diagnosis. Genetic testing involves taking a family history and doing blood tests on family members.

20. Conti… O Prenatal testing can determine if an unborn baby has thalassemia and how severe the disease is. O Placenta, Amniotic fluid, Umbilical cord O Haemoglobin electrophoresis.

21. Treatment O depend on the type and severity of the disorder.  Regular blood transfusions  Iron chelation therapy  Folic Acid  Bone marrow transplants

22. Blood Transfusion O Healthy Blood – Intravenously O Takes 1-4 hours O repeated transfusions to maintain a healthy supply of red blood cells O (Cooley's anemia)-need regular blood transfusions (often every 2 to 4 weeks).

23. Iron chelation therapy O Regular blood transfusions can lead to Iron overload O Damages the liver, heart, and other parts of the body. O Deferoxamine O Deferasirox O Deferiprone

24. Folic Acid O B vitamin that helps build healthy red blood cells. Your doctor may recommend folic acid supplements in addition to treatment with blood transfusions and/or iron chelation therapy.

25. Bone Marrow & Stem Cell Transplant O Replaces faulty stem cells with healthy ones from a donor O have been used successfully in some children with severe thalassemia. O Risky procedure and it may result in death.

26. Possible Future Treatments O new treatments for thalassemias. O to insert a normal hemoglobin gene into stem cells in bone marrow. O to trigger a person's ability to make fetal hemoglobin after birth. This type of hemoglobin is found in fetuses and newborns.