Thalassemia

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1. THALASSEMIA

2. INTRODUCTION Thalassemia is an inherited (i.e., passed from parents to children through genes) blood disorder caused when the body doesn’t make enough of a protein called hemoglobin, an important part of red blood cells. When there isn’t enough hemoglobin, the body’s red blood cells don’t function properly and they last shorter periods of time, so there are fewer healthy red blood cells traveling in the bloodstream.

3. Normally, Hb is composed of 4 protein chains, two α and two β globin chains. In thalassemia , patients have defects in either the α or β globin chain causing production of abnormal red blood cells.

4. DEFINITION Thalassemia is a group of hereditary hemolytic anemia characterized by reduction in the synthesis of hemoglobin.

5. CLASSIFICATION

6. ALPHA THALLASEMIA

7. ALPHA THALASSEMIA Alpha thalassemia is the result of changes in the genes for the alpha globin component in hemoglobin. The worldwide distribution of inherited Alpha-Thalassemia is corresponding to areas of Malaria exposure.

8. ETIOLOGY Mutation in the DNA of cells that produce hemoglobin It is a form of thalassemia involving the genes HB1 and HB2 It is most commonly inherited in a Mendelian recessive fashion

9. BETA THALLASEMIA

10. Beta Thalassimia Specifically, it is characterized by a genetic deficiency in the synthesis of beta- globin chains. Beta-globin is a component (subunit) of hemoglobin.

11. 15 TYPES OF BETA THALASSEMIA Beta thalassemia minor The mildest form of beta thalassemia Thalassemia trait Heterozygous disorder resulting in mild hypochromic , microcytic hemolytic anemia Beta thalassemia intermedia Severity lies between the minor and major. Beta thalassemia major Homozygous disorder resulting in severe transfusion-dependent hemolytic anemia

12. PATHOPHYSIOLOGY

13. CLINICAL MANIFESTATIONS MONGOLOID ANOREXIA POOR FEEDING ABDOMINAL PAIN GROWTH RETARDATION ANAEMIA

14. FAILURE TO THRIVE BRONZE DISCOLOURATION OF THE SKIN DUE TO HYPERPIGMENTATION METABOLIC SYMPTOMS SEVERE BONY CHANGES AND PATHOLOGICAL FRACTURE RECURRENT RESPIRATORY INFECTIONS CLINICAL MANIFESTATIONS cont…

15. GOUT IRON OVERLOAD HYPER-METABOLISM NEUROPATHY PARALYSIS PROTRUDING ABDOMEN WITH ENLARGED SPLEEN AND LIVER CLINICAL MANIFESTATIONS cont…

16. DIAGNOSTIC EVALUATION BLOOD EXAMINATION- Hb % level decreased, RBCs increased number BONE MARROW STUDY SKELETAL SURVEY RADIOLOGICAL FINDINGS HB ELECTROPHORESIS- Hemoglobin electrophoresis elevated levels of HbF and HbA 2 ; limited amount of HbA .

17. Low mean corpuscular volume and mean corpuscular hemoglobin concentration microcytosis and hypochromia . Peripheral blood smear many aminopoikilocytes , nucleated RBCs. Reticulocyte count low, usually less than 10%.

18. MANAGEMENT IRON CHELATION THERAPY. DEFEROXAMINE - INJECTION AND DEFERASIROX is recommended to prevent complication of repeated blood transfusion i.e Haemosiderosis and Haemochromatosis (high absorption and deposition of iron leading to a high serum level, pigmentation of the skin. It is given as a continuous SC infusion in the dose of 25 to 50 mg/kg/day over a period MANAGEMENT

19. Repeated blood transfusion Pharmacotherapy Folic acid supplementation. Supportive management New approaches- Gene therapy Gene manipulation

20. SURGICAL MANAGEMENT Splenectomy Bone marrow transplantation Autologous BMT Allogenic BMT Umbilical Cord BMT

21. COMPLICATIONS Splenomegaly & Hepatic failure Growth retardation Gall bladder stones Skeletal complications Transfusion related infections ie HIV.HB,HC Endocrinopathies like DM, hypothyroidism, hypogonadism . Multi organ dysfunction

22. Nursing Assessment Obtain family history of thalassemia or unexplained anemia or heart failure. Perform whole body examination to assess for anemia and systemic complications of thalassemia . Measure growth and development parameters

23. Nursing Diagnoses 1. Ineffective tissue perfusion related to abnormal hemoglobin. 2. Risk of infection related to anemia. 3. Activity intolerance related to anemia. 4. Chronic pain related to skeletal changes. 5. Body image disturbances related the bony changes and facial deformities. 6. Ineffective family coping related to poor prognosis

24. Nursing Interventions Maximizing Tissue Perfusion Administer blood transfusions as ordered. Observe for signs of transfusion reaction (increased chance caused by frequency) including allergic, febrile, septic, circulatory overload, and hemolytic reactions. Allergic reactions usually occur within 15 to 20 minutes of start of the transfusion, although delayed reactions may occur up to several months later

25. Monitor cardiovascular status for complications. Monitor apical pulse, BP, and respirations. Assess for edema. Auscultate heart sounds for gallop and lungs for rales . Assess extremities for ulcer formation. Refer to care of the child with heart failure

26. Relieving Bone Pain Monitor CBC as ordered and report Hb levels of less than 10 g/ dL . Elevate lower extremities. Provide warm baths or soaks. Administer or teach proper administration of NSAIDs, such as ibuprofen (Motrin) or naproxen ( Naprosyn ). Use carefully and monitor liver enzymes in patients with liver complications.

27. Minimizing Activity Intolerance Encourage participation in activities that do not require significant strenuous activity. Full participation in some activities, especially with peers, will increase self-esteem. Facilitate physical and occupational therapy consultation to develop an acceptable exercise plan. Assist the parents in contacting the child's school and develop a plan of gym activities, classes, and rest periods that allow the greatest level of participation and slowly develop endurance. Advise parents that during the week of the scheduled transfusion, the fatigue will be greatest, so gym and other exertional activities should be modified

28. Suggest that driving the child to school and providing adequate rest at home will provide her with more energy for school activities. Discourage participation in contact or other sports that increase the child's risk for a fracture (skateboarding, football, soccer

29. PREVENTIVE MEASURES Antenatal screening Genetic counselling Carriers can be detected with simple blood examination or by identifying thalassemic gene . Discuss alternative parenting options like insemination, adoption etc.. Creation of awareness among public regarding detection of thalassemia before marriage and marital counselling

30. Prognosis Prognosis is clearly related to treatment in the form of high transfusion program and adequacy of chelaton therapy. Patients are now surviving into 3 rd and 4 th decade and beyond, Child with thalassemia intermedia may continue their life up to 5-6 decade. Thalassemia minor may lead a normal life.

31. Thank You..