Thalassemia

Presented by:
Arpita Saha
 Epidemiology:
Worldwide, 15 million people have clinically
apparent thalassemia disorders. Reportedly,
there are about 240 million carriers of β-
thalassemia worldwide, and in India alone, the
number is approximately 30 million with a
mean prevalence of 3.3%(2,3). They are
encountered among all ethnic groups and in
almost every country around the world.
Pathophysiology of thalassemia
 Types of Thalassemia
There are 2 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.
There are many forms of thalassemia. Each type has many different subtypes.
Both alpha and beta thalassemia include the following 2 forms:
Beta-Thalassemia major
Thalassemia major characterized by growth retardation, pallor, jaundice, poor
musculature, hepatosplenomegaly, leg ulcers, skeletal changes resulting
from expansion of bone marrow.
Beta thalassemia intermediate
Present with intermediate severity of anemia and do not required blood
transfusion on regular basis.
Beta-Thalassemia minor
Characterized by mild anemia with elevated level of HbA2 or HbF
Shape of RBC
 Clinical Appearance

• Severe anaemia, with an Hb level of 3-7g/dL.

• Massive hepatosplenomegaly.
• Severe growth retardation.
• Bony deformities
• In most patients with thalassemia traits, no unusual
signs or symptoms are encountered.
• Some patients, especially those with somewhat more
severe forms of the disease, manifest some pallor and
slight icteric discoloration of the sclerae with
Splenomegally, leading to slight enlargement of the
abdomen.
Etiology
 Diagnostive Procedure:
• Physical Examination- History taking and clinical assessment of symptoms
Blood tests may also be used to:
• Measure the amount of iron
• Evaluate hemoglobin level
• Perform DNA analysis to diagnose thalassemia or to determine if a person is
carrying mutated hemoglobin genes
• Radiology:
• X ray of skull and hand
• Prenatal testing
• Testing can be done before a baby is born to find out if he or she has
thalassemia and determine how severe it may be. Tests used to diagnose
thalassemia in fetuses include:
• 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.
• Amniocentesis. This test is usually done around the 16th week of
pregnancy and involves taking a sample of the fluid that surrounds the fetus.
 Diagnostive Procedure:

Assisted reproductive technology

A form of assisted reproductive technology that
combines preimplantation genetic diagnosis with
in vitro fertilization may help parents who have
thalassemia or who are carriers of a defective
haemoglobin gene give birth to healthy babies.
The procedure involves retrieving mature eggs
and fertilizing them with sperm in a dish in a
laboratory. The embryos are tested for the
defective genes, and only those without genetic
defects are implanted into the uterus.
 Management

Curative Preventive
Management Management
 Curative
Management
• Rest
• Diet:
Patients/ children are encouraged to avoid high-iron and iron-supplemented
foods, and encouraged to drink tea with meals, which decreases iron
absorption.
Proteins that should be avoided or eliminated from the diet:
Liver
Pork
Beans
Beef
Peanut butter
tofu
Grains that should be avoided or eliminated from the diet:
Infant cereal
Cream of wheat
Fruits/Vegetables that should be avoided or eliminated from the diet:
• Prune juice
• Prunes
• Watermelon
• Spinach
• Leafy green vegetables
• Dates
• Raisins
• Broccoli
• Peas
Treatments for moderate to severe thalassemia
• Treatments for moderate to severe
thalassemia may include:
• Blood transfusions
• People with severe thalassemia require
medical treatment. A blood transfusion
regimen was the first measure effective in
prolonging life.
 Outline for transfusion of Blood

• Goals of transfusion
• Basic requirements
– Blood products for transfusion
– Blood storage
– Donor selection and sample testing
– Compatibility testing
• Adverse reactions
– other adverse reactions
– Minimising infection and non-infection risks
– Future approaches to reducing infection risk
• Recommended transfusion regime
– Optimise
• Oxygen carriage
• Supression of IE
– Minimise - Iron loading
 When to start transfusion
• Should be based on a definitive diagnosis of severe
thalassemia
• Diagnosis should take into account the molecular defect,
the severity of anaemia on repeated measurement
• The level of ineffective erythropoietin, and clinical criteria
such as failure to thrive or bone changes
• Regular transfusion therapy for severe thalassemia usually
occurs in the first two years of life
• Some patients with milder forms of thalassemia who only
need sporadic transfusions in the first two decades of life
may later need regular transfusions because of a falling
haemoglobin level or the development of serious
complications
 Standard Transfusion Regimen for Thalassemia Major
Regular blood transfusions administered every 2-5 weeks
Maintain the pre-transfusion Hb > 9-10.5g/dl
• Rationale
– promotes normal growth
– allows normal physical activities
– adequately suppresses bone marrow activity in most patients
– minimises transfusional iron accumulation [Cazzola 1995,1997]
• Modifications
– A higher target 11-12 g/dl may be appropriate for patients with heart
disease or other medical conditions and for those patients who do not
achieve adequate suppression of bone marrow activity at the lower
haemoglobin level.
– Although shorter intervals between transfusions may reduce overall blood
requirements, the choice of interval must take into account other factors
such as the patient’s work or school schedule
 Compatibility Testing
• Before embarking on transfusion therapy
– patients should have extended red cell antigen typing
– at least C, c, E, e.
• Blood selection
– transfused with ABO and Rh(D) compatible blood.
– Some clinicians recommend the use of blood that is also matched for at
least the C, E and antigens in order to avoid alloimmunisation against
these antigens.
– Some centres use even more extended antigen matching.
• Before each transfusion
– it is necessary to perform a full crossmatch and screen for new
antibodies
• If new antibodies appear, they must be identified so that blood missing the
corresponding antigen(s) can be used
• A complete record of
– antigen typing,
– red cell antibodies and transfusion reactions
– should be readily available if the patient is transfused at a different
centre.
• Transfusion of blood from first-degree relatives should be avoided because
of the risk of developing antibodies that might adversely affect the outcome
of a later bone marrow transplant
 Adverse reactions

• Acute haemolytic reactions

• Delayed transfusion reactions
• Autoimmune haemolytic anaemia
• Non-haemolytic febrile transfusion reactions
• Allergic reactions
• Transfusion-related acute lung injury (TRALI)
 Minimising infection risk
Donor Selection & Product screening
• Blood should be obtained from carefully selected
healthy voluntary donors who have undergone
extensive questioning and laboratory screening for:
• Hepatitis B, hepatitis C, HIV, syphilis and other
infectious diseases.
• Specific strategies for donor selection and product
screening will be influenced by the prevalence of
infectious agents in the donor population.
 Iron loading from transfusion
• 200mg iron in 1 blood unit (from 420ml of donor)
– 0.47mg iron/ml of whole blood
– 1.08mg iron/ml of ‘pure’ red cells
• In Thal Major (spelenctomised) if mean Hb 12g/dl
– 300mls blood/kg body wt per annum
– More if not splenectomised
= average 0.4 mg iron / kg body wt/ day from transfusion
– Add 1-4 mg/day from gut absorption
– In practice wide range 0.3 to 0.7 mg/kg/day
– 4 to 10 g of iron per year
 Medications/ Chelation therapy:

Multiple blood transfusions can result in iron overload.

The iron overload related to thalassemia may be
treated by chelation therapy with the medications
deferoxamine, deferiprone, or deferasirox. These
treatments have resulted in improving life expectancy
in those with thalassemia major.
Indication:
• After 20-25 RBC transfusion over
• And specially when serum iron level is 1000 ng/dl.
• A liver iron concentration (LIC) of greater than 3 mg
iron/g dry weight as measured by liver biopsy or by
hepatic T2 on magnetic resonance imaging
Deferoxamine :is only effective via daily injections which makes its
long-term use more difficult.

Approximately 8 mg of iron is bound by 100 mg of deferoxamine. This

agent is excreted in bile and urine, resulting in red discoloration. It
readily chelates iron from ferritin and hemosiderin, but not from
transferrin.

Deferoxamine is most effective when it is administered as a continuous

infusion.
 Doses :
Acute Iron Poisoning
• IM administration is indicated for all patients NOT in shock;
administer 1g IM initially and then 500mg Q4hr for 2 doses.
• Depending upon clinical response, subsequent doses of 500mg Q4-
12hr can be administered
• Maximum dose: 6g in 24 hours
• IV administration should be reserved for patients in a state of
cardiovascular collapse or shock; 1g slow IV infusion.
• Rate of infusion should not exceed 15mg/kg/hr for the first dose;
subsequent doses should not be infused at a faster rate than
125mg/hr
Chronic Iron Overload
• SC administration: 1-2g (20-40mg/kg/day) SC over 8-24 hours using
a small portable pump capable of providing continuous mini-
infusion; individualize infusion duration
• IV administration in patients with IV access: 40-50mg/kg/day over
8-12 hours for 5-7 days/ week (maximum of < 60mg/kg/day and an
IV infusion rate of <15mg/kg/hr)
• IM administration: 0.5-1g QD (maximum of 1g QD)
Adverse effects- are primary skin reactions around the injection site
and hearing loss
 Deferasirox has the benefit of being an oral
medication. Deferasirox is available as a tablet for
oral suspension.

Doses :
• 20 mg/kg PO QDS; may increase by 5-10 mg
increments based on serum ferritin; if not
controlled on 30 mg/kg/day (ie, serum ferritin
persistently >2500 mcg/L), may increase up to 40
mg/kg QDS.
• Common side effects include: nausea, vomiting
and diarrhea.
Bone marrow transplant
• Bone marrow transplantation may offer the
possibility of a cure in young people who have an
HLA-matched donor. Success rates have been in the
80–90% range. Mortality from the procedure is about
3% .
• If the person does not have an HLA-matched
compatible donor, another method called bone
marrow transplantation (BMT) from haploidentical
mother to child (mismatched donor) may be used.
• mortality 7%.
 Nursing Management:
Rest:
Diet:
• Physical Examination:
• On clinical assessment children will show gross clinical features
Subjective data:
• There should always inquire about the patient's ethnic background, family history
of hematologic disorders, and dietary history as this is a heterogenous group of
heritable disease.
• An affected child's parents or caregivers may report history of pallor, abdominal
distension of child, anorexia, activity intolerance.
Objective data:
• Assessment for following:
• Severe anemia, with an Hb level of 3-7g/dL., pallor, fatigue.
• Massive hepatosplenomegaly, distended abdomen.
• Severe growth retardation.
• Bony deformities
• Observation for sign of hemosidarosis.
 Nursing Diagnosis:

• Ineffective tissue perfusion related to haemoglobin

abnormality.
• Activity intolarence related to anemia as evidence by
easy fatigability.
• Imbalance nutrition less than body requirement related
to inadequate intake of essential nutrient due to disease
process as evidence by growth failure.
• Disturb body image related to disease process as
evidence by abdominal pain.
• Anxiety related to repeated blood transfusion as
evidence by repeated questioning.