1. Thalassemia
Ms. K. Lavanya
MSc(N)-CHN
Associate Professor

2. Definition:
•The word thalassemia is derived from the
Greek words “Thalassa” means the great sea.
The disease was described by Cooley in 1925.
So other name for thalassemia is Cooley’s
anemia.

3. Definition:
• Thalassemia is a group of hereditary hemolytic
anemia characterized by reduction in the synthesis
of hemoglobin.
• Thalassemia can be considered as hemolytic and
hypo proliferative anemia related to abnormal
hemoglobin.

4. Incidence:
 1st noticed in patients originating from the Mediterranean Sea.
 The prevalence of the disease in India is high among Gujaraties, sindhis, and
Punjabis.
 There are millions of people as carriers of thalassemia gene and every year
thousands of thalassemia children are born in our country.
 6000-8000 new cases were detected every year in India.

5. Etiology:
Hereditary
Defective hemoglobinization of RBCs
Hemolysis
Ineffective erythropoiesis

6. Classification:
Thalassemia Major
Thalassemia Intermediate
Thalassemia Minor

7. • Thalassemia Major:
• Severe form of illness & associated with homozygous state.
Thalassemic genes are inherited from parents. There is malfunction &
failure of organs like liver, spleen, heart etc.,
•

8. Thalassemia Intermediate:
• It is a state of chronic hemolytic anemia caused by deficient alpha
or beta chain synthesis. This is a homozygous form.
• These patients may have chronic liver dysfunction, osteoporosis,
mild hepatomegaly & chronic anemia.

9. Thalassemia Minor:
• It is a mild form of illness produced by heterozygosity of either
alpha or beta chain. Asymptomatic form.

10. Pathophysiology:

11. Clinical Manifestations:
 Manifested age of 3 months
 Progressive Pallor
 Jaundice
 Hepatosplenomegaly
 Recurrent respiratory infections
 Lymphadenopathy
Growth Failure

12. Contd….
 Facial- Frontal bossing
o Prominent maxilla
o Depressed bridge of nose
o Puffy eyes
o Malocclusion of teeth
 Abdominal distention
 Irregular fever
 Increased pigmentation skin
 Skeletal changes

13. Complications:
 Congestive cardiac failure
 Hepatic failure
 Aplastic crisis
 Intercurrent infections
 Gall stone
 Growth retardation
 Delayed puberty
 Transfusion related infections (HIV, HB, HC)
 Diabetes Mellitus
 Hypothyroidism
 Multi organ dysfunction

14. Diagnostic Evaluation:
1. Blood picture
o Hb percentage- decrease usually 2-6 gm/dl
o Reduced RBC count- 2-3 million/cmm
o Increased Hb-f
o Decreased HCT Values
o Increased reticulocyte count
o In peripheral smear RBC shows as- hypochromia, anisocytosis, poikilocytosis, microcytosis,
nucleated RBCs, and target cells.
o Decreased WBC count
o Increased platelet count
o Increased serum bilirubin level
o Increased serum iron level

15. Bone marrow shows- Hyper cellular & erythroid hyperplasia
Osmotic fragility test shows decreased fragility
Radiological findings
o Widening of medulla
o Thinning of cortex
o Skull bones show hair on end appearance
o Coarsening of trabeculations due to bone marrow hyperplasia in the long
bones, metacarpals and metatarsals.

16. Management:
 Repeated blood transfusion
• It is given at regular interval to maintain hemoglobin level at least 10-11
mg/dl.
• Iron chelation therapy:
o Iron chelating agent desferrioxamine is recommended.
o Route- SC dose 25-50mg/kg/day in 2-3 dose.
• Splenectomy:
o When the child need very frequent blood transfusion

17. Management:
• Folic acid supplements:
o Dietary iron is avoided so that folic acid supplementation given
• Supportive management:
o To treat complications
o Vaccination with Hepatitis-B is necessary to prevent transfusion related infection.
o Emotional support
• Bone Marrow transplantation
o Defective stem cells are replaced by normal stem cells.

18. Nursing Diagnosis:
 Risk of infection related to anemia
 Activity intolerance related to anemia
 Chronic pain related to skeletal changes
 Body image disturbance related to bony changes
 Ineffective family coping related to poor prognosis
 Knowledge deficit related to child care in long term chronic illness
with hemolytic anemia.

19. Nursing Interventions:
 Assessment of child condition to prevent complications that can be
done as hospital based or community based
 Preparation for repeated hospitalization
 Arrange of necessary diagnostic measures
 Administration of blood transfusion, iron chelating agent with
appropriate precaution
 Emotional support to the parents & family members.

20. Preventive Measures:
 Antenatal screening in the 1st trimester of pregnancy
 Genetic counselling
 Creation of awareness among public.

21. Prognosis:
 Thalassemia major is poor
 Thalassemia intermedia 5-6 decades
 Thalassemia minor may lead near normal life.