CHAPTER I

PRELIMINARY

I. BACKGROUND
Thalassemia comes from the Greek word, which is talassa which means
sea. What is meant by the sea is the Mediterranean, because this disease was
first known in the area around the Mediterranean. This disease was first
discovered by a doctor in Detroit USA named Thomas. Thalasemia is
ahemolytic anemia where red blood cell demage occurs in blood vessels so
that the age of erythrocytes becomes short (less than 100 days).
Thalassemia is a blood disorder that is passed down from parents to
children. Thalassemia affects the ability to produce hemoglobin which
results in anemia. Hemoglobin is a protein in red blood cells that carries
oxygen and other nutrients in other cells in the body. Around 100.000
babies worldwide are born with a dangerous type of thalassemia every year.
Therefore we feel the need to know more about thalassemia, because
people affected by thalassemia not only experience hematological disorders
but also immune disorders so it needs to get special attention.
II. FORMULATION OF THE PROBLEM
1. What is the Thalasemia?
III. DESTINATION
1. To determine the Thalasemia.

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 CHAPTER II

LITERATURE REVIEW

I. Get to know Thalassemia

A. Definition of Thalassemia

Thalassemia is a type of congenital blood disorder characterized by the

condition of red blood cells (erythrocytes) easily damaged or shorter in life
than normal blood cells in general (120 days). Usually this condition is
passed down from parents to their children since they are still in the womb.
Parents who reduce this condition are parents whose body contains the
Thalassemia trait gene as well as the parent carrier. To find out someone is
included as a carrier of nature or laboratory tests can not be done.

B. Causes and Performance of Thalassemia

Thalassemia occurs due to the inability of the bone marrow to form the
protein needed to produce hemoglobin (Hb) perfectly. Thalassemia is not a
contagious disease, but belongs to a hereditary group that is the result of an
imbalance in the production of one of the four amino acid chains that make
up hemoglobin.

Bone marrow in patients with thalassemia produces more red blood

cells than normal people, but the resulting erythrocytes can not last up to
120 days. Most people with Thalassemia who are not treated early, the Hb
will be lower so that it can cause various bone disorders.

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 C. Signs of Thalassemia

1) Bone disorders 4) Easily infected

2) Enlargement of the spleen 5) Iron overload

3) Heart disease 6) reduced body growth

Types of Thalassemia

Thalassemia is a genetic disorder characterized by reduced or no

hemoglobin chains, so that it has little ability to bind oxygen.
Thalassemia can be divided into three, namely:

1. Thalassemia α
2. Thalassemia β
3. Thalassmia ᵟβ

1. Thalassemia α, often found in Asians, mainly due to the deletion

(absence) of the α gene.
In normal individuals there are 4 α genes on a pair of
chromosomes, namely 2 genes on the paternal chromosome (derived

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 from the father). Deletions can occur in 1 gene, 2 genes, 3 genes or 4
genes. The number of gene deletions determines the severity of the
patient's condition, namely:
 In deletion 1, the α gene (called α thalassemia 2) has a slight effect on
abnormal blood function.
 In deletion 2 the α gene (called α thalassemia 1) can cause mild
anemia.
 In deletions 3 α genes (called "HbH disease") can cause severe
anemia.
 In deletion 4 α genes can be fatal in infants.
2. Thalassemia β, distinguished again in β ̊ and β +. In thalassemia β ̊ chain
β is not found at all, whereas in thalassemia β + β chain disinistesa in
small quantities. The mechanism for thalassemia β is still less clear than
thalassemia α.
In thalassemia β + occurs abnormalities in the processing of ARNd
precursors, whereas in thalassemia β ̊ there can be more complex
abnormalities. In β thalassemia no β gene deletions are found, so it can
be estimated that the amount of ARNd decreases as it is released from the
nucleus to the cytoplasm, due to damage during processing of ARNd or
ARNd that forms unstable.
Heterozygotic β thalassemia results in mild anemia and usually
does not require treatment. In homozygotic anemia there is severe anemia
that requires blood transfusion. In homozygotic thalassemia β there is no
HbA at all, whereas in homozygotic β + thalassemia, HbA is found in
very small amounts.
3. Thalassemia ᵟ β or also called Thalassemia F is the suppression of chain
production in thalassemia β. In heterozygous conditions, HbA is found in
small amounts and in large amounts of HbF. In homozygotic conditions
only HbF is found and sufferers can experience rather severe anemia.
According to the research of some experts Thalassemia is a genetic
disorder, which is generally and easily known to be determined by the

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 autosomal dominant Th gene. In normal people have genotype thth.
Homozygotic infants are dominant ThTh (thalassemia major) sufferers of
severe anemia, which can be fatal. Heterozygotic individuals suffer from
thalassemia minor, anemia which is not severe, so they can still survive.
If a married couple, each suffering from thalassemia minor then the
possibility of 25% of their children will die from suffering from severe
anemia, namely Thalassemia major.
Consider the following picture:

In the picture is a marriage diagram of a family with thalassemia minor.

It is likely that 25% of their children will die in infancy due to
Thalassemia major.
II. Transfusion
The need for blood transfusion for each patient with thalassemia is not the
same depending on body weight and initial Hb of the patient. Can be calculated
using the following formula:
Body weight (BW) x (initial 12-Hb) x 4 = amount of blood needed. (one term)

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III. Desferal
Desferal is a routine that must be done by patients with thalassemia to
maintain the stability of iron in the patient's body. Desferal works in two
ways:
1. Desferal will decrease the total amount of iron in the body, namely by
taking iron from organs and removing it from organs and removing it from
the body during urination (urine) and defecation (fecal).
2. Desferal keeps the iron in the body working according to its normal
function.
Various types of iron chelation drugs prescribed by doctors include:
1. Deferoxamine
Provision by using special tools, which is a kind of special infusion.
Once a day consumption lasts up to 8 hours. In every month, sufferers
need a minimum of 20 days of consumption.
2. Depheriprone
Its trademark is known as Feriprox in the form of caplets and syrups.
Giving directly swallowed through the mouth. Consumed 3 times a day, 30
days a month.
3. Deferasirox
The trademark is Exjade. Consumed 1-2 times a day, 28-30 days a
month.

Spread of Thalassemia

A. Causes of Thalassemia
Thalassemia is not a contagious disease but a genetically inherited
disease. An increasing number of thalassemia sufferers have three possible
conditions including:
1. Normal (clean)
A person's condition is free from thalassemia.
2. Carrier (trait carrier)

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 Carrier of thalassemia but not a patient, in the body of a carrier there is
a gene carrying thalassemia.
3. Thaller (sufferers of thalassemia)
Patients with thalassemia, he needs regular blood transfusions. A
Thaller must be careful in looking for his life partner so that his
offspring do not become sufferers.
B. Decreased mechanism of thalassemia
1. Normal individuals + normal individuals
If a normal individual gets a partner with a normal individual, this
partner will get 100% normal, 0% carrier, and 0% thaller.
2. Individual carriers + normal individuals
The chances of offspring born from this pair are 50% normal, 50%
carrier and 0% thaller.

3. Individual carrier + individual carrier

Children born to this couple have a 25% chance of being born normally,
a carrier of 50% and a thaller of 25%

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4. Individual thaller + normal individual
Chances are that offspring are born 0% normal, 100% carrier and 0%
thaller.
5. Individual thaller + individual carrier
The descendants obtained include: normal conditions 0% normal, 50%
carrier, and 50% thaller.
6. Individual thaller + individual thaller
The chances of being born from this pair are 100% thalassemia
sufferers.

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C. Impact of Thalassemia
Impact for sufferers of Thalassemia
1. Growth
Patients with thalassemia confirmed that their physical growth has
slowed and lagged compared to normal people. This can be minimized
by adequate blood transfusion and iron fulfillment.
2. Education
Patients are rarely able to complete their education because of medical
therapy schedule that is time-consuming and decreased enthusiasm for
learning due to illness.
3. Psychologist
Thalassemia sufferers will have uncomfortable feelings about their
environment, in their relationships tend to be closed. Research in India
states that 70% of people with thalassemia experience anxiety about
their schools, especially academic activities and sports (Ghraibeh et al,
2009). Another study states that 68% of thallers develop negative self-
concepts because they feel uncomfortable with their physical (Khurana,
2006).

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IV. Take Care for Persons with Thalassemia
A. Factors that need attention
1. Hemoglobin (Hb) Level
The level of hemoglobin of a thaller must always be controlled, not to
go down too low let alone fall drastically. Hb control can be done at the
nearest clinic or laboratory.
2. Ferritin
Ferritin is a protein that contains iron. This protein is found in internal
organs, namely the spleen and also the liver. Ferritin checking is done
at least once every 6 months.

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 3. Food
A thaller must avoid foods that contain lots of iron, such as green
vegetables and red meat, and foods that are salted because these food
products can increase the absorption of iron in the body.
4. Medicines and supplements
Consumption of medicines must be done continuously plus food
supplements to strengthen the patient's immune system.
5. Activities
One symptom of a thaller is bone loss, so thallers have a greater risk of
fractures compared to normal people. Also avoid activities that are too
draining to avoid falling Hb levels too quickly.
B. Healing
We have now found a way to cure people with thalassemia by means
of spinal cord transplantation and stem cell technology. In 2008, in Spain,
a baby was selectively implanted to be a treatment for its siblings suffering
from thalassemia. The child is born from an embryo selected to be free of
thalassemia before implantation by in vitro fertilization.
Immunocompatible placental blood supply is stored for the transplant
of his brother. The transplant was quite successful. In 2009, a group of
specialist doctors in Chennai and Coimbatore recorded a successful
treatment of Thalassemia in a child using a placenta from his sibling.
However, these two methods are constrained, so it cannot be applied by
every group of sufferers. These constraints are very expensive and the
percentage of success is still quite low.

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 CHAPTER III

CLOSING
I. CONCLUSION
Thalassemia is a type of congenital blood disorder characterized by
the condition of red blood cells (erythrocytes) easily damaged or shorter in
life than normal blood cells in general (120 days). Usually this condition is
passed down from parents to their children since they are still in the
womb. Parents who reduce this condition are parents whose body contains
the Thalassemia trait gene as well as the parent carrier. To find out
someone is included as a carrier of nature or laboratory tests can not be
done.

II. SUGGESTION
To better understand this material, look for accurate learning references.

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