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INTRODUCTION
 Thalassemia is a genetic blood disorder.
 People with Thalassemia disease are not able to
make enough hemoglobin, which causes severe
anemia.
 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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https://www.youtube.com/shorts/rUA249lO
PLc
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
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
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.
 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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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.
CLINICAL MANIFESTATIONS OF
THALASSEMIA MAJOR
 MONGOLOID
 ANOREXIA
 POOR FEEDING
 ABDOMINAL PAIN
 GROWTH
RETARDATION
 ANAEMIA
 FAILURE TO THRIVE
 BRONZE DISCOLOURATION OF THE SKIN
DUE TO HYPERPIGMENTATI0N
METABOLIC SYMPTOMS
 SEVERE BONY CHANGES AND
PATHOLOGICAL FRACTURE RECURRENT
RESPIRATORY INFECTIONS
 GOUT
 IRON OVERLOAD
 NEUROPATHY
 PARALYSIS
 PROTRUDING ABDOMEN
WITH ENLARGED SPLEEN
AND LIVER
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
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 balance the rate of iron accumulation from
blood transfusion by increasing iron excretion
in urine and or faces with chelators
 Pharmacotherapy
 Folic acid supplementation.
 Supportive management
 New approaches
 Gene therapy
 Gene manipulation
SURGICAL MANAGEMENT
 Splenectomy
 Bone marrow transplantation
 1. Autologous BMT
 2. Allogenic BMT
 3. Umbilical Cord
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
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
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
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
 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.
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
thalassemia
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thalassemia

  • 1.
  • 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.
  • 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
  • 9.
  • 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
  • 15.
  • 16.
  • 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
  • 25.
  • 26. SURGICAL MANAGEMENT  Splenectomy  Bone marrow transplantation  1. Autologous BMT  2. Allogenic BMT  3. Umbilical Cord
  • 27.
  • 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  www.authorstream.com  www.slideshare.com  www.scribed.com  www.webmd.com