Thalassemia is a genetic blood disorder characterized by defective or reduced hemoglobin production. There are two main types: alpha thalassemia results from missing or variant genes that produce alpha globin chains, while beta thalassemia is caused by defective beta globin chain genes. Symptoms range from mild to severe anemia. Treatment depends on the severity and may include blood transfusions, iron chelation therapy, and bone marrow transplant. Prognosis is generally poor without treatment.

1. Thalassemia

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
reduced or
characterized by
of
haemoglobin,
absent amounts
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
undiagnosed because kids
minor often goes
with the
condition have no real symptoms other
than mild anemia and small red blood
cells.

9. ▶Beta-Thalassemia Intermedia:
▶Children
intermedia
with
have
beta thalassemia
varing effect from
disease – mild anaemia might be their
only symptoms or might they require
regular blood transfusion.

10. ▶Beta thalassemia major:
▶Beta thalassemia also called
major
Cooley’s anaemia, severe condition in
which regular blood transfusions are
necessary for child to survive.

11. CAUSES AND RISK
FACTORS:
▶Family History:
▶Ancestry:

12. CLINICAL
MANIFESTATIONS
▶Fatigue
▶Weakness
▶Pale or yellowish skin
▶Facial bone deformities
▶Slow growth
▶Abdominal swelling
▶Dark urine

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.

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.

20. Splenectomy.

21. management of
▶Supportive
complications.

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.
whole
▶Perform
examination
anemia
body
to assess for
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