thalassemia

Thalassemia is an inherited blood disorder that causes your body to have less hemoglobin than normal. Hemoglobin enables red blood cells to carry oxygen. Thalassemia can cause anemia, leaving you fatigued.

1. INTRODUCTION Thalassemia is a genetic blood disorder. People with Thalassemia disease are not able to make enough hemoglobin, which causes severe anemia.

2. Hemoglobin is found in red blood cells and carries oxygen to all parts of the body. When there is not enough hemoglobin in the red blood cells, oxygen cannot get to all parts of the body. Organs then become starved for oxygen and are unable to function properly.

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6. https://www.youtube.com/shorts/rUA249lOPLc

7. Thalassemia INCIDENCE Thalassemia affects approximately 4.4 of every 10,000 live births throughout the world. it was found that 50% of the patients had died before age 35

8. TYPES 1) ALPHA THALASSEMIA : Alpha thalassemia is the result of changes in the genes for the alpha globin component in hemoglobin. There is need for four genes (two from each parent) to make enough alpha globin protein chains. If one or more of the genes is missing, people have alpha thalassemia disease. This means that body doesn't make enough alpha globin protein

9. Beta thalassemia Person need two genes (one from each parent) to make enough beta globin protein chains. If one or both of these genes are altered , person will have beta thalassemia. This means that person body doesn’t make enough beta protein.  If person have one altered gene , he/she is a carrier. This condition is called beta thalassemia trait or beta thalassemia minor. It causes mild anemia. 

10. If both genes are altered , person will have beta thalassemia major (also called Cooley’s anemia). The major form causes severe anemia

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13. Thalassemia minor - Those who have inherited the defective gene for alpha chain of Hb usually don’t show any symptoms that’s because the alpha gene defect doesn’t cause any major problem that interfere with the Hb function.

14. CLINICAL MANIFESTATIONS OF THALASSEMIA MAJOR  MONGOLOID ANOREXIA POOR FEEDING ABDOMINAL PAIN GROWTH RETARDATION ANAEMIA

15. FAILURE TO THRIVE BRONZE DISCOLOURATION OF THE SKIN DUE TO HYPERPIGMENTATI0N METABOLIC SYMPTOMS SEVERE BONY CHANGES AND PATHOLOGICAL FRACTURE RECURRENT RESPIRATORY INFECTIONS

16. GOUT IRON OVERLOAD NEUROPATHY PARALYSIS PROTRUDING ABDOMEN WITH ENLARGED SPLEEN AND LIVER

17. Diagnostic evaluation History Physical Examination Blood Test – CBC, Microscopic Analysis – Abnormal Rbcs. Hb Electrophoresis – Show Abnormal From Of Hb. Bone Marrow Study Skeletal Survey Radiological Findings

18. Management It is treated with regular blood transfusion and chelation therapy. Blood transfusion – it is given to the patient with major thalassemia. It is required in every 2-3 weeks to supplement RBCs and maintain a Hb level of around 9gmldL.

19. Iron chelation therapy – with repeated blood transfusion, iron load of the body in patient increase, the condition is called iron overload. Which can create complication and damage other healthy organs include heart & liver. to balance the rate of iron accumulation from blood transfusion by increasing iron excretion in urine and or faces with chelators

20. Pharmacotherapy Folic acid supplementation. Supportive management New approaches Gene therapy Gene manipulation

21. SURGICAL MANAGEMENT Splenectomy Bone marrow transplantation 1. Autologous BMT 2. Allogenic BMT 3. Umbilical Cord

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

23. 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

24. Nursing Diagnosis Ineffective tissue perfusion related to abnormal hemoglobin. Risk of infection related to anemia. Activity intolerance related to anemia. Chronic pain related to skeletal changes. Body image disturbances related the bony changes and facial deformities. Ineffective family coping related to poor prognosis

25. 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

26. Recent study regarding the thalassemia The life expectancy of patients with thalassemia major has significantly increased in recent years, as reported by several groups in different countries. However, complications are still frequent and affect the patients' quality of life. In a recent study from the United Kingdom, it was found that 50% of the patients had died before age 35.

27. Bibliography “ Suddarth’s & burnner ” text book of medical surgical nursing, twelth edition,Wolters publication, Page no. 925- 926 “Saunders” comprehensive review for the NCLEX RN examination, fifth edition, elsevier publication, page no. 522- 523 www. authorstream .com www. slideshare .com www. scribed .com www. webmd .com