Thalassemia is a blood disorder caused by missing or mutated genes that affect hemoglobin production. It is classified based on whether the alpha or beta globin chain is affected and causes anemia. Symptoms range from mild to severe depending on the type. Diagnosis involves blood tests and genetic analysis. Treatment options include blood transfusions, iron chelation therapy, bone marrow transplants, and lifestyle management to prevent complications like infections and iron overload. Education of families on the genetic implications and lifelong management of the condition is important.

1. THALASSEMIA

2. INTRODUCTION
Thalassemia is derived from the Greek word
thalassa ("sea") and -emia ("blood"), it is a
blood disorder and is caused by variant or
missing genes that affect how the body makes
hemoglobin

3. DEFINITION
Thalassemia are forms of inherited
autosomal recessive blood disorders and is
characterized by an absence or decrease
synthesis of one of the normal chains of
hemoglobin.

4. CLASSIFICATION
According to which chain of the hemoglobin
molecule is affected:-
 Alpha (α) thalassemias
 Beta (β) thalassemias

7. CAUSES
 Thalassemia is caused by an autosomal recessive
pattern of inheritance of genes.
 Alfa Thalassemia occur when a gene and genes
related to alpha globin protein are missing or
changed(mutated).
 Beta Thalassemia occur when similar gene defects
affect production of beta globulin protein.

8. PATHOPHYSIOLOGY
Due to inherited autoimmune recessive factors
Decreased production of β-chains in Hb
Excessive α-chains precipitated inside normoblast
These are then destroyed within the bone marrow

9. Ineffective erythropoisis
Anaemia
Increase erythropoietin production
Increased ineffective erythropoeisis
Expansion of Medullary cavity of bones
Extra medullary hemopoeisis
Hepatosplenomegaly

10. SIGN AND SYMPTOMS
Minor Thalassemia:-
 Generally asymptomatic
 Spleenomegaly
 Mild jaundice
Major Thalassemia:-
 Pale and general
symptoms of anemia
 Spleenomegaly
 Jaundice
 Bone marrow
hyperplasia
 Physical and mental
retardation
 Bone deformity in face.
 Growth failure
 Fatigue
 Shortness of breath

11. DIAGNOSTIC EVALUATION
 A physical examination
may reveal enlarged or
swollen spleen.
 RBC’s will appear small
and abnormally shaped
when looked under
microscope and with
hemoglobin
 electrophoresis.

12.  CBC reveals anemia.
 Mutational analysis helps to diagnose
alpha thalassemia.

13. TREATMENT
MEDICAL CARE
Mild thalassemia : patients with thalassemia traits do
not require medical or follow-up care after the initial
diagnosis is made.
 They should use Iron therapy.
 Counseling is indicated in all persons with genetic
disorders.
Moderate to Severe thalassemia :
 medical treatment and a blood transfusion regimen
 stem cell and bone marrow transplantations are
necessary.

14. Medication
 Blood Transfusion:- Patient having Thalassemia Major
needs regular Blood Transfusion of RBC’s (often 2-4
weeks).
 Chelation Therapy:- Chelation or removal of excessive
iron deposits in the blood called Iron Overload. It
damages the heart, liver and other parts of body.
 Deferoxamine is the intravenously or subcutaneously
administered chelation agent.
 Deferasirox (Exjade) and Deferiprone are oral iron
chelation drugs.

15.  Folic Acid supplements
 It helps in building healthy RBC’s and proved more
beneficial if given with Vitamin B12 supplements.
 Certain food items like- spinach, whole grain, liver,
mushrooms, milk, eggs etc should be added to food.
 Other treatments:- Patient is likely to get other
infections like flu and pneumonia, so treatment
measures for these kinds of infections can be taken.

16.  Bone Marrow along with Stem Cell Transplantation.
 Bone Marrow Transplant (BMT) from compatible
donor
 Bone Marrow Transplant (BMT) from haploidentical
mother to child
 Hematopoietic stem cell transplantation

17. LIFESTYLE AND HOME REMEDIES
 Avoid excess iron.

 Eat a healthy diet
 Avoid infections.

18. COMPLICATIONS
 Iron overload
 Infection
 Bone deformities
 Enlarged spleen
 Slowed growth rates
 Heart problems

19. PREVENTIVE MEASURES
 CARRIER DETECTION
 A screening policy which includes pre-natal
screening and abortion
 Premarital screening
 Genetic counseling.
 IMMUNIZATION:- against influenza and flu shots.

20. NURSING MANAGEMENT
Nursing Assessment:-
 Obtain Family history of Thalassemia or
unexplained anemia or heart failure.
 Perform whole body examination to assess for
anaemia and systemic complications of
Thalassemia.
 Measure growth and development parameters in
children.

21. Ineffective tissue perfusion related to
abnormal Hb.
Goal:- Maximizing Tissue Perfusion.
 Administer blood transfusion as ordered.
 Monitor cardiovascular status for complications.
 Monitor vital signs.
 Monitor for any complications.

22. Acute bone pain related to disease condition.
 Monitor CBC as ordered and report Hb levels of less
than 10g/dl.
 Elevate lower extremities.
 Provide warm baths or soaks.
 Administer or teach proper administration of
NSAID’s.

23. Risk for infection related to nature to
disease and splenectomy.
 Explain the client that after splenectomy, there is an
increase in chance of acquiring infections.
 Give prophylaxis antibiotic before doing any invasive
procedures.
 Ensure that the client may have taken vaccination
against pneumococcal, hemophillus influenza,
meningococcal etc.
 Educate to take prompt treatment when any fever or
any signs of infection occurs

24. FAMILY EDUCATION AND HEALTH MAINTENANCE
 Discuss the genetic implications of thalessemia and
refer for genetic counseling.
 Provide detailed instruction about:
◦ Prevention and prompt treatment of infections.
◦ Medications
◦ Home chelation therapy.
◦ Dietary modification to limit iron intake.
◦ Activity restrictions,including avoidance of activities that
increase the risk of fractures.
◦ Signs of complications.
 Encourage parents of affected child to provide
information about the child’s condition to significant
adults who are involved with child and child care.

25. SUMMARIZATION
 Introduction
 Definition
 Classification
 Causes
 Pathophysiology
 Sign and symptoms
 Diagnostic tests
 Treatment
 Complication
 Prevention
 Family education and health maintenance.

26. BIBLIOGRAPHY
BOOK REFERENCES:-
 Black JM, Howks JH. Medical Surgical Nursing. South
Asia.ed.8th.Pp.822-34.
 Brunner, Sidharth.Textbook of Medical Surgical
Nursing. Lippincott William and
Wilkins.ed.10th.Pp.1676-81.
 Lippincott. Manual of Nursing Practice.Jaypee
Brothers Medical Publishers(p)Ltd.ed.8th.Pp.1107-8.

27. WEBSITE REFERENCES
◦ Weatherall David J, "Chapter 47. The Thalassemias: Disorders of Globin
Synthesis" (Chapter). Lichtman MA, Kipps TJ, Seligsohn U, Kaushansky K,
Prchal, JT: Williams Hematology, 8e:
http://www.accessmedicine.com/content.aspx?aID=6123722.
◦ Mayoclinic.http://www.mayoclinic.com/health/thalassemia/DS00905/DSECTI
ON=complications. Retrieved 20 September 2011.
◦ Modiano, G. et al. (1991). "Protection against malaria morbidity: Near-
fixation of the α-thalassemia gene in a Nepalese population". American
Journal of Human Genetics 48 (2): 390–397. PMC 1683029. PMID 1990845.
◦ Terrenato, L. et al. (1988). "Decreased Malaria Morbidity in the Tharu People
Compared to Sympatric Populations in Nepal". Annals of Tropical Medicine
and Parasitology 82 (1): 1–11. PMID 3041928.
◦ E. Goljan, Pathology, 2nd ed. Mosby Elsevier, Rapid Review Series.
◦ http://www.dmsc.moph.go.th/webrOOt/ri/Npublic/p04.htm
◦ Online 'Mendelian Inheritance in Man' (OMIM) 141800
◦ "Pediatric Thalassemia Treatment & Management". Medical Care. Open
Publishing. 30 April 2010. Retrieved 27 September 2011.
◦ Harrison's Principles of Internal Medicine 17th Edition. McGraw-Hill medical.
September 2008. pp. 776. ISBN 0-07-164114-9.

28. RESEARCH
 In Spain, a baby was selective for implantation in
order to be a cure for his brother's thalassemia. The
child was born from an embryo screened to be free
of the disease before implantation with In vitro
fertilization. The baby's supply of immunologically
compatible cord blood was saved for transplantation
to his brother. The transplantation was considered
successful.
 After a year a group of doctors and specialists in
Chennai and Coimbatore registered the successful
treatment of thalassemia in a child using a sibling's
umbilical cord blood.