Thalassemias

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1. Peer Group Presentation Subject – Medical Surgical Nursing Topic – Thalassemia Presented by Mr. Hari Singh Nagar M.Sc Nursing 1 st year

2. Thalassemia Introduction - It is a group of hereditary anaemia associated with defective synthesis of Hb, the production of one or more globin chain within the Hb molecules is reduced leads to - Hypochromia (hypo – less, and chromia means – color that means an abnormal decrease in the Hb content of RBCs) & Extreme Microcytosis (small then normal RBCs), Haemolysis (destruction of blood elements) .

3. 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. At that age, 50% of the patients from an Italian long-term study were still alive.

4. Normal level RBC - Male – 4.5-6.2 million cells/ mcl Female = 4-5.5million cells/ mcl Haemoglobin - Male = 14-16.5mg/dl Female = 12-15mg/dl Bilirubin - Direct (conjugated) – 0-0.3mg/dl Indirect (unconjugated) – 0.1-1gm/dl Total – less then 1.5gm/dl Serum iron – Male = 65-175mcg/dl Female = 50-170mcg/dl

5. Definition It is the form of inherited blood disorder characterized by abnormal formation of Hb. It results in improper oxygen transport and destruction of RBCs which leads to anaemia. Causes Mutation in gene or defect in gene Genetic

6. Types Haemoglobin made up of two parts. Alpha globins Beta globins Thalassemia occurs when there is a defect in genes that helps control production of one of these proteins. There are 2 main types of thalassemia. Alpha – it occurs when a genes related to the alpha globins are missing or changed (mutated). Beta – it occurs when similar gene defect affect production of the B-globin protein.

7. Both A & B thalassemia including the following two forms – Thalassemia major – you must inherit the gene defect from both parents to develop thalassemia major. It is also called as Cooley's anemia . 2. Thalassemia minor – it occurs if you receive the faulty gene from only one parents.

8. Clinical manifestation 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.

9. Clinical manifestation But people who have a beta chain of Hb have mild anaemia. The Hb can range from completely normal to 1-2 gm/DL less then normal. If it is occurs you must have a greater chances to develop a more serious form of the disease.

10. 2. Thalassemia major People who have inherited the defect for beta chain of Hb from both the parents suffer from thalassemia major, also called Hb H disease or Cooley's anaemia. The symptoms are severe & usually seen within the first two years of life. Severe anaemia A pale appearance Anorexia, jaundice Delay growth & puberty due to anaemia.

11. Weak bone – abnormal facial bone Infection iron overload Enlargement of spleen, liver and heart.

12. Diagnostic evaluation History Physical examination Blood test – CBC, microscopic analysis – abnormal RBCs. Hb electrophoresis – show abnormal from of Hb. Mutational analysis – it can be done when results of Hb electrophoresis are inconclusive.

13. 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. 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 prevent iron overload medicines are prescribed.

14. Deferoxamine & deferasirox are common iron chelators that free iron in the blood and cause it’s elimination through the urine. 3. Supplements – folic acid supplements must be given to enhance the production of healthy RBCs. Surgery Bone marrow transplantation Spleenectomy – it is performed who required repeated blood transfusion (assist in relieving the abdominal pressure & increase the life span of supplemental RBCs). Instruct the patient to report sign of infection because of the risk of sepsis.

15. Complication Heart disease Liver disease Endocrine problems Delay growth Osteoporosis Thrombophilia

16. Nursing management Nursing diagnosis – ineffective tissue perfusion related to reduce cellular components as evidence by cyanosis. 2. Nursing diagnosis – activity intolerance related to imbalance of oxygen supply and consumption need as evidence by fatigue. 3. Nursing diagnosis – imbalance nutrition less the body requirements related to lack of appetite as evidence by weight and skin integrity.

17. Nursing management Nursing diagnosis – ineffective tissue perfusion related to reduce cellular components as evidence by cyanosis. Nursing goal – To improve tissue perfusion. Intervention – Monitor sign of hypoxia such as cyanosis, hyperventilation, increase pulse, breath frequency and B.P. Provide frequent rest periods to reduce oxygen consumption. Provide oxygen therapy to patients. Monitor vital sign. Observe any restlessness and confusion.

18. 2. Nursing diagnosis – activity intolerance related to imbalance of oxygen supply and consumption need as evidence by fatigue. Nursing goal – To improve the activity tolerance Intervention - Assess the capability of doing activity. Monitor vital sign before & after the activity. Create a schedule to perform the activities. To stop activities if pulse, BP, respiration, fatigue or dizziness will increase. Provide frequent rest periods to reduce oxygen consumption. To administer blood products.

19. 3. Nursing diagnosis – imbalance nutrition less the body requirements related to lack of appetite as evidence by weight and skin integrity. Nursing goal – To maintain the nutritional level Intervention Allow to eat food that can be tolerated to improve the nutritional quality at the appetite increase. Provide nutritious food which include high caloric, high protein, vitamin and minerals. Check the weight daily. Provide IV fluid if not able to take by mouth.

20. 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.

21. Recent study regarding the Thalassemia At that age, 65% of the patients from an Italian long-term study were still alive. Heart disease is responsible for more than half of the deaths. rates of survival and complication-free survival continue to improve, due to better treatment strategies. New complications are appearing in long-term survivors. Iron overload of the heart remains the main cause of morbidity and mortality.

22. 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