Thalassemia is a genetic blood disorder characterized by insufficient hemoglobin production, leading to severe anemia and organ oxygen deprivation. The two main types, alpha and beta thalassemia, result from genetic alterations affecting the alpha and beta globin chains, respectively, with varying severity from mild symptoms to life-threatening conditions. Management includes regular blood transfusions, iron chelation therapy, and potential surgical interventions, while preventive measures focus on genetic counseling and awareness to improve life expectancy and quality of life for affected individuals.

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

3.  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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8. 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

10. 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

11. 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.

12.  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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17. 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.

18. CLINICAL MANIFESTATIONS OF
THALASSEMIA MAJOR
 MONGOLOID
 ANOREXIA
 POOR FEEDING
 ABDOMINAL PAIN
 GROWTH
RETARDATION
 ANAEMIA

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

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

21. 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

22. 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.

23.  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

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

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

28. 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

29. 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

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

31. 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

32.  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.

33. 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
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