Thalassemia

Thalassemia

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 characterized by reduced or absent amounts of haemoglobin, the oxygen-carrying protein inside the red blood cells.”

4. TYPES OF THALASSEMIA:   The two main types of thalassemia, Alpha 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 Minor (trait), Intermedia and 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 minor often goes undiagnosed because kids with the condition have no real symptoms other than mild anemia and small red blood cells.

9. Beta-Thalassemia Intermedia : Children with beta thalassemia intermedia have varing effect from disease – mild anaemia might be their only symptoms or might they require regular blood transfusion.

10. Beta thalassemia major: Beta thalassemia major also called 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 HbA 2 ; 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.

17. 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.

18. Splenectomy .

19. Supportive management of complications.

20. Bone marrow transplants may be considered. Young patients with few complications are the best candidates.

21. Prognosis is poor because no cure is known; commonly fatal in late adolescence or early adulthood.

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 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

24. Disturbed Body Image related to endocrine and skeletal abnormalities Ineffective Family Coping related to poor prognosis