THALASSEMIA
RATHEESH. R L

DEFINITION
• Thalassemia describes a group of inherited dis
orders characterized by reduced or absent
amounts of hemoglobin, the oxygen-
carrying protein inside the red blood cells.

TYPES
• There are two main types of thalassemia:
• Alpha thalassemia:
occurs when a gene or genes related
to the alpha globin protein are missing or
changed (mutated).
• Beta thalassemia:
occurs when similar gene defects
affect production of the beta globin protein.

Beta thalassemia
• Its of three types
1. Beta thalassemia minor
2. Beta thalassemia intermedia
3. Beta thalassemia major

Beta thalassemia minor
if beta or alpha gene is affected the person
will develop mild anemia, this condition is
known as Beta thalassemia minor

Beta thalassemia intermedia
it is mainly affecting children. Anemia
will be the only symptom in this case and the
child require blood transfusion as treatment.

Beta thalassemia major
Beta thalassemia major, also called as
cooly’s anemia. It is a severe condition in which
massive decrease in the Hb level will occur and
it require regular blood transfusion to survive.

CAUSES AND RISK FACTORS
• The main cause of thalassemia is the changes that
occurs in the genes.
• RISK FACTORS ARE
1. Family history of thalassemia. Thalassemia is
passed from parents to children through mutated
hemoglobin genes. If you have a family history of
thalassemia, you may have an increased risk of the
condition.

2. Certain ancestry. Thalassemia occurs most
often in people of Italian, Greek, Middle Eastern,
Asian and African ancestry.

PATHOPHYSIOLOGY
• Thalassemia is a blood disorder that is caused
by gene mutations in cells that are responsible
for producing hemoglobin.
• Haemoglobin is made up of a heme ring of
iron and four globin chains, two alpha chains
and two beta (or gamma) chains.

• Thalassemia is a blood disorder that is caused by
gene mutations in cells that are responsible for
producing hemoglobin.
• This leads to a reduction in the number and
ability of the red blood cells to carry oxygen
throughout the body and can cause sufferers to
feel symptoms such as fatigue.

• Thalassemia disrupts the normal production
of hemoglobin and leads to low level of
hemoglobin and high rate of red blood cell
destruction and leads to anemia.

Signs and symptoms
• Fatigue
• Weakness
• Pale appearance
• Yellow discoloration of skin (jaundice)
• Facial bone deformities
• Slow growth
• Abdominal swelling
• Dark urine

• Gall stones
• Shortness of breath
• Palpitation
• Splenomegaly and hepatomegaly
• Poor appetite

DIAGNOSIS
1.HISTORY COLLECTION AND PHYSICAL
EXAMINATION
2.BLOOD STUDIES
• If your child has thalassemia, blood tests
may reveal:
– A low level of red blood cells
– Smaller than expected red blood cells
– Pale red blood cells
– Red blood cells that are varied in size and shape

– Red blood cells with uneven hemoglobin distribution,
which gives the cells a bull's-eye appearance under
the microscope
• Blood tests may also be used to:
– Measure the amount of iron in your child's blood
– Evaluate the hemoglobin
– Perform DNA analysis to diagnose thalassemia or to
determine if a person is carrying mutated hemoglobin
genes.

3. Chorionic villus sampling. This test is usually
done around the 11th week of pregnancy and
involves removing a tiny piece of the placenta
for evaluation.
4. Amniocentesis. This test is usually done
around the 16th week of pregnancy and involves
taking a sample of the fluid that surrounds the
fetus.

MANAGEMENT
• Frequent blood transfusions.
More-severe forms of thalassemia
often require frequent blood transfusions, possibly
every few weeks. Over time, blood transfusions
cause a buildup of iron in blood, which can damage
the heart, liver and other organs.

• Stem cell transplant.
Also called a bone marrow
transplant, a stem cell transplant may be used to
treat severe thalassemia in select cases.
• Folic acid supplements.
folic acid helps to build healthy
red blood cells.

• Other treatments:
The people with thalassemia
have more chance to get other infections. So
that adequate vaccination is necessary to
prevent the other infections.
• Surgery
surgery is needed if the body
organs like spleen or gall bladder is affected.

NURSING MANAGEMENT
• If the blood transfusion is performed,
continuously monitor the lab values
• Watch for the adverse reactions during blood
transfusion
• Instruct the patient to take supplementary
folic acid.
• Encourage the patient to take a well balanced
diet

• Advice the patient to be hygienic and protect
himself from infections
• Advice to take more fruits and vegetables
• Instruct the patient to avoid strenuous
activities.