2. INTRODUCTION:
Thalassemia, a hereditary (genetic disorder) is
characterized by defective synthesis in the
polypeptide chains of the protein component of
haemoglobin or decreased production of
haemoglobin, a molecule found inside blood
cells (RBCs) that transports oxygen the body.
Consequently, Red Blood Cells synthesis is also
impaired.
3. DEFINITION:
Thalassemia is defined as, “a group of
inherited disorders characterized by
reduced or absent amounts of
haemoglobin, the oxygen-carrying
protein inside the red blood cells.”
4. TYPES OF
THALASSEMIA:
The two main types of thalassemia,
1. Alpha
2. Beta
Named for the two protein chains that
make up normal haemoglobin.
Haemoglobin includes two kinds of protein
chains called alpha globin chains and beta
globin chains.
5. Alpha Thalassemia:
Alpha thalassemia occurs when one or
more of the four genes needed for making
the alpha globin chain of haemoglobin are
variant or missing.
Moderate to severe anaemia results when
more than two genes are affected.
The most severe form of alpha thalassemia
is known as alpha thalassemia major
6. Beta thalassemia:
Beta thalassemia occurs when one or both of
the two genes needed making the polypeptide
globin chain of haemoglobin is defective.
The severity of illness depends on whether one
or both genes are affected and the nature of
abnormality.
If both genes are affected, anaemia can range
from moderate to severe.
7. Beta-thalassemia is grouped into
three categories
1. Minor (trait),
2. Intermedia and
3. Major (cooley's anemia).
8. Beta-thalassemia Minor (trait):
If one gene is affected, person is carrier
and has mild anemia. This condition is
called beta thalassemia trait or beta
thalassemia minor.
Beta thalassemia minor often goes
undiagnosed because kids with the
condition have no real symptoms other
than mild anemia and small red blood
cells.
9. Beta-Thalassemia Intermedia:
Children with beta thalassemia
intermedia have varing effect from
disease – mild anaemia might be their
only symptoms or might they require
regular blood transfusion.
10. Beta thalassemia major:
Beta thalassemia major also called
Cooley’s anaemia, severe condition in
which regular blood transfusions are
necessary for child to survive.
13. DIAGNOSTIC
EVALUATIONS
Hb level decreased.
Increased number of RBC.
Low mean corpuscular volume and mean
corpuscular hemoglobin concentration.
Peripheral blood smear many anisopoikilocytes,
nucleated RBCs.
Reticulocyte count low, usually less than 10%.
Hemoglobin electrophoresis elevated levels of
HbF and HbA2; limited amount of HbA
14. MANAGEMENT
Treatment for thalassemia depends on which
type have and how severe it is.
Treatments for mild thalassemia
Signs and symptoms are usually mild with
thalassemia minor and little, if any, treatment is
needed.
Occasionally, may need a blood transfusion,
particularly after surgery, after having a baby or
to help manage thalassemia complications.
15. Treatments for moderate to severe
thalassemia
Treatments for moderate to severe thalassemia
may include:
16. Frequent and regular blood transfusions of
packed RBCs to maintain Hb levels above 10
g/dL.
Washed, packed RBCs are usually used to
minimize the possibility of transfusion
reactions. If unavailable, leukofiltered cells
can be substituted.
The frequency and amount of transfusions
depend on the size of the child, usually 10
to 15 mL packed RBC per kg body weight
every 2 to 3 weeks.
17.
18. Iron chelation therapy with deferoxamine
(Desferal) reduces the toxic adverse effects
of excess iron; increases iron excretion
through urine and feces.
I.V. infusion of 100 to 150 mg/kg per day
given in hospital during blood transfusion
or for child with high ferritin level and
poor compliance with home chelation
therapy.
Subcutaneous infusion of 50 mg/kg per
day usually infused 12 hours during night
for home therapy.
22. Bone marrow transplants may be
considered. Young patients with
few complications are the best
candidates.
23. Prognosis is poor because no cure is
known; commonly fatal in late
adolescence or early adulthood.
24. 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.
25. Nursing Diagnoses
Ineffective Tissue Perfusion related to
abnormal Hb
Chronic Pain related to progression of
disease in bone
Activity Intolerance related to bone pain,
cardiac dysfunction, and anemia
Risk for Infection related to progressive
anemia and splenectomy
Deficient Knowledge related to iron
chelation therapy
26. Disturbed Body Image related to
endocrine and skeletal
abnormalities
Ineffective Family Coping related
to poor prognosis
