Thalassemia is a genetic blood disorder characterized by inadequate hemoglobin production. It results from defects in genes that control alpha or beta globin chain production. Thalassemia major occurs when individuals are homozygous for the thalassemia gene and require regular blood transfusions and iron chelation therapy to manage severe anemia, iron overload, and other complications like heart and liver disease. Nurses monitor patients for hypoxia and fatigue from anemia and ensure adequate nutrition through dietary supplementation and intravenous fluids as needed.

1. THALASSEMIA
Presented By:
Mr. Nandish.S
Asso. Professor
Mandya Institute of Nursing Sciences

3. DEFINITION :
 Thalassemia is a inherited blood disorder, in which the body makes an
abnormal form of Hemoglobin.
 Thalassemia is an autosomal recessive genetic disorder that results in
inadequate normal Hemoglobin production.
 It is a group of diseases that have an autosomal recessive genetic basis
involving insufficient normal Hemoglobin production.
 It is a group of hereditary disorder characterized by Hypochromia,
Extreme microcytosis, hemolysis & variable degree of anemia.
 It is a group of Anemia associated with defective synthesis of
hemoglobin & production of one or more globin chains.

4. INCIDENCE :
 It affects 4.4 kids out of every 10,000 live births.
 Over 90 millions of people are suffering from β Thalassemia.
 It was found that 50% of patients with thalassemia died at the age of
35 years.
 Highest prevalence is found n people of Mediterranean, Africa &
South east Asia.

6. CLASSIFICATION :
- To produce healthy Hemoglobin, we need two proteins.
• Alpha (α) globins / chain
• Beta (β) globins / chain
- Without enough of one or the other chain, our blood will not carry its
function.
Thalassemia occurs when there is defect in genes that control production
of these protein. There are mainly 2 types.
1. α thalassemia : it occurs when gene related to α globin are missing or
mutated.
2. β thalassemia : it occurs when gene defect affect production of β
globin.

7. α THALASSEMIA:
 It is milder than other form.
 Most of the time, it occurs without symptoms.
 Erythrocytes are extremely microcytic & mild anemia is present.
 The mechanism of development is not well understood.

8. β THALASSEMIA:
 Thalassemia Major : a person who is homozygous having two
thalassemic genes & no normal gene, which is a severe form. A defect
gene from both parents. It is also called as Tansfusion dependent
thalassemia or Cooley’s Anemia. No functional β chains are produced.
 Thalassemia Minor : a person who is heterozygous has one
thalassemic gene & one normal gene, which is mild form. Patients will
remain asymptomatic.

9. PATHOPHYSIOLOGY :
Due to etiological factors
Alter in the ratio between α and β globin chain
Decrease in production of one or more globin chain
Formation of abnormal Hemoglobin
Ineffective erythropoiesis
Excessive RBC destruction
Thalassemia

10. CLINICAL MANIFESTATIONS :
The symptoms are severe & seen within the first two years of life.
 Anemia
 Pale appearance
 Anorexia
 Jaundice
 Delay in growth & puberty
 Weak bone (abnormal facial bone)
 Iron overload
 Hepato – splenomegaly
 Risk for infections

12. DIAGNOSTIC STUDIES :
 History collection & Physical Examination
 Blood Examination : CBC
 Microscopic Analysis of RBC (increase reticulocytes)
 Hemoglobin Electrophoresis
 Mutational Analysis (it is done when Hb electrophoresis is
inconclusive)

13. COMPLICATIONS :
 Cardiac Failure
 Hemochromatosis
 Growth failure
 Liver Disease
 Endocrinal dysfunction
 Osteoporosis

14. MANAGEMENT :
 No specific drug or diet therapy are effective in treating thalassemia.
 Thalassemia minor requires no treatment as body adapts to it.
 Symptoms of thalassemia major are managed with :
1. Blood Transfusion
• It is required in every 2 to 3 weeks to maintain Hb 10g/dl.
2. Iron Chelation Therapy
• With repeated blood transfusion, iron load of the body in patient
increases. It can create complications & damage other healthy organs.
• To prevent this Inj. Deferoxamine (Desferal) & Deferasirox are
administered which reduce iron overload & cause elimination through
urine.

15. 3. Supplementation
• Folic acid tablets are prescribed to enhance the production of healthy
RBC.
4. Surgery
• Bone Marrow Transplantation
• Splenectomy
* Even with the treatment, Thalassemia Major patients experience
complications like heart failure, growth retardation.

16. NURSING MANAGEMENT :
1. Ineffective tissue perfusion related to reduce cellular components as
manifested by cyanosis.
Interventions :
 Monitor the patients for signs of hypoxia.
 Provide adequate bed rest to decrease oxygen demand.
 Initiate oxygen administration with minimal flow.
 Observe patients like restlessness & confusion to rule out cerebral
hypoxia.

17. 2. Activity intolerance related to oxygen insufficiency as manifested by
fatigue.
Interventions :
 Check the ability of patient to do activity.
 Measure vital signs before & after the activities.
 Create schedule to perform the activities.
 Provide frequent rest period to reduce oxygen consumption.
 If fatigue is due to anemia, then plan for blood transfusion.

18. 3. Imbalanced nutrition, less than body requirement related to anorexia as
manifested by weight loss.
Interventions:
 Check the weight of patient every day.
 Administer IV Fluids, if patient is not taking oral foods.
 Provide food items, which patient like the most.
 Plan a menu which provides high calorie with all necessary nutrients.
 Allow to consume food which can be tolerated so that patient can
practice oral foods.