THALASSEMIA.pptx
- 1. Thalassemia
- 2. INTRODUCTION: ▶ Thalassemia, a hereditary (genetic disorder) is characterized by defective synthesis in the polypeptide chains of the protein component of haemoglobin or decreased production of haemoglobin, a molecule found inside blood cells (RBCs) that transports oxygen the body. Consequently, Red Blood Cells synthesis is also impaired.
- 3. DEFINITION: ▶Thalassemia is defined as, “a group of inherited disorders reduced or characterized by of haemoglobin, absent amounts the oxygen-carrying protein inside the red blood cells.”
- 4. TYPES OF THALASSEMIA: ▶The two main types of thalassemia, 1. Alpha 2. Beta ▶Named for the two protein chains that make up normal haemoglobin. Haemoglobin includes two kinds of protein chains called alpha globin chains and beta globin chains.
- 5. ▶Alpha Thalassemia: ▶Alpha thalassemia occurs when one or more of the four genes needed for making the alpha globin chain of haemoglobin are variant or missing. ▶Moderate to severe anaemia results when more than two genes are affected. ▶ The most severe form of alpha thalassemia is known as alpha thalassemia major
- 6. ▶Beta thalassemia: ▶Beta thalassemia occurs when one or both of the two genes needed making the polypeptide globin chain of haemoglobin is defective. ▶ The severity of illness depends on whether one or both genes are affected and the nature of abnormality. ▶If both genes are affected, anaemia can range from moderate to severe.
- 7. ▶Beta-thalassemia is grouped into three categories 1. Minor (trait), 2. Intermedia and 3. Major (cooley's anemia).
- 8. ▶Beta-thalassemia Minor (trait): ▶ If one gene is affected, person is carrier and has mild anemia. This condition is called beta thalassemia trait or beta thalassemia minor. ▶ Beta thalassemia undiagnosed because kids minor often goes with the condition have no real symptoms other than mild anemia and small red blood cells.
- 9. ▶Beta-Thalassemia Intermedia: ▶Children intermedia with have beta thalassemia varing effect from disease – mild anaemia might be their only symptoms or might they require regular blood transfusion.
- 10. ▶Beta thalassemia major: ▶Beta thalassemia also called major Cooley’s anaemia, severe condition in which regular blood transfusions are necessary for child to survive.
- 11. CAUSES AND RISK FACTORS: ▶Family History: ▶Ancestry:
- 12. CLINICAL MANIFESTATIONS ▶Fatigue ▶Weakness ▶Pale or yellowish skin ▶Facial bone deformities ▶Slow growth ▶Abdominal swelling ▶Dark urine
- 13. DIAGNOSTIC EVALUATIONS ▶ Hb level decreased. ▶ Increased number of RBC. ▶ Low mean corpuscular volume and mean corpuscular hemoglobin concentration. ▶ Peripheral blood smear many anisopoikilocytes, nucleated RBCs. ▶ Reticulocyte count low, usually less than 10%. ▶ Hemoglobin electrophoresis elevated levels of HbF and HbA2; limited amount of HbA
- 14. MANAGEMENT ▶ Treatment for thalassemia depends on which type have and how severe it is. ▶Treatments for mild thalassemia ▶Signs and symptoms are usually mild with thalassemia minor and little, if any, treatment is needed. ▶Occasionally, may need a blood transfusion, particularly after surgery, after having a baby or to help manage thalassemia complications.
- 15. ▶Treatments for moderate to severe thalassemia ▶Treatments for moderate to severe thalassemia may include:
- 16. ▶Frequent and regular blood transfusions of packed RBCs to maintain Hb levels above 10 g/dL. ▶Washed, packed RBCs are usually used to minimize the possibility of transfusion reactions. If unavailable, leukofiltered cells can be substituted. ▶The frequency and amount of transfusions depend on the size of the child, usually 10 to 15 mL packed RBC per kg body weight every 2 to 3 weeks.
- 18. ▶ Iron chelation therapy with deferoxamine (Desferal) reduces the toxic adverse effects of excess iron; increases iron excretion through urine and feces. ▶I.V. infusion of 100 to 150 mg/kg per day given in hospital during blood transfusion or for child with high ferritin level and poor compliance with home chelation therapy. ▶Subcutaneous infusion of 50 mg/kg per day usually infused 12 hours during night for home therapy.
- 20. Splenectomy.
- 22. ▶Bone marrow transplants may be considered. Young patients with few complications are the best candidates.
- 23. ▶Prognosis is poor because no cure is known; commonly fatal in late adolescence or early adulthood.
- 24. Nursing Assessment ▶ Obtain family history of thalassemia or unexplained anemia or heart failure. whole ▶Perform examination anemia body to assess for and systemic complications of thalassemia. ▶ Measure growth and development parameters.
- 25. Nursing Diagnoses ▶Ineffective Tissue Perfusion related to abnormal Hb ▶Chronic Pain related to progression of disease in bone ▶Activity Intolerance related to bone pain, cardiac dysfunction, and anemia ▶Risk for Infection related to progressive anemia and splenectomy ▶Deficient Knowledge related to iron chelation therapy
- 26. ▶Disturbed Body Image related to endocrine and skeletal abnormalities ▶Ineffective Family Coping related to poor prognosis