CHAPTER I

Exposure

1.1 Background

Thalassemia comes from the Greek word thalasso which means sea. The sea is the sea sea,
because it was first known in the middle sea. Thalassemia is a disease disorder inherited by parents
to their children. A child who inherits a mutation gene is called a carrier, while a child who inherits
two genes (one from a mother and one from a father) will have thalassemia. Thalassemia is a disease
of hemolytic anemia in which there is damage of red blood cells in the blood vessels so that the age
of erythosit become short.

Thalassemia can affect the ability to produce hemoglobin which results in anemia. Hemoglobin is
a protein in red blood cells that transports oxygen and other nutrients into the body. There are two
types of thalassemia, namely alpha and beta. Prevention of thalassemia is still difficult because of
the lack of community knowledge and infrastructure inadequate.

1.2 Problem Formulation

1. What is Thalasemia?
2. Which are classifications of thalassemia?
3. What the Causes of Thalassemia?
4. What are the symptoms of thalassemia?
5. How to Treatment of Thalassemia?

1.3 Purpose
To know about :
1. What is thalassemia
2. the classification of thalassemia
3. the cause of thalassemia
4. the symptoms of thalassemia
5. the Treatment of Thalassemia
 CHAPTER II

Contents

2.1 definition of thalassemia

The thalassemias are a group of genetic (inherited) blood disorders that share in
common one feature, the defective production of hemoglobin, the protein that enables red
blood cells to carry and deliver oxygen and nutrition. There are many different mechanisms
of defective hemoglobin synthesis and, hence, many types of thalassemia. it is passed down
from one or both parents through their genes. When you have thalassemia, your body makes
less hemoglobin than normal. Hemoglobin is an iron-rich protein in red blood cells. It carries
oxygen to all parts of the body. There are two main types of thalassemia: alpha and beta.
Different genes are affected for each type.

Thalassemia can cause mild or severe anemia. Anemia occurs when your body does
not have enough red blood cells or hemoglobin. The severity and type of anemia depends on
how many genes are affected.

2.2 Classification of Thalassemia

A. Alpha Thalassemia
Is a form of thalassemia involving the genes HBA1 and HBA2. Alpha thalassemia is
due to impaired production of alpha chains from 1,2,3 or all 4 of the alpha globin
genes, leading to a relative excess of beta globin chains. The degree of impairment is
based on which clinical phenotype is present.
There are at least fmain types of alpha thalassemia
a. Alpha thalassemia minor, in which two alpha globin genes are missing or
abnormal, usually does not cause major health problems. However, affected
individuals may have significant anemia, and can pass the condition on to their
children.
b. Alpha thalassemia major, the most severe form, results from having no genes
for the production of alpha globin. Affected fetuses suffer from severe
anemia, heart failure and fluid buildup. They usually are stillborn, but some
die in the first hours after birth. In rare cases, babies diagnosed and treated
before birth have survived.
B. Beta Thalassemia
There are two forms of beta thalassemia. They are thalassemia minor and thalassemia
major (which is also called Cooley's anemia ).Many people with this disorder are
given iron replacement by mistake. This happens when a lack of iron is believed to
cause their anemia. Too much iron can be harmful. So it is important to get the right
diagnosis. You may need to see a blood disorder specialist, called a hematologist.
 What is the difference between thalassemia minor and major?

 Thalassemia minor: The individual with thalassemia minor has only one copy of the
beta thalassemia gene (together with one perfectly normal beta-chain gene). The
person is said to be heterozygous for beta thalassemia. Person with thalassemia minor
have (at most) mild anemia (slight lowering of the hemoglobin level in the blood).
This situation can very closely resemble that with mild iron-deficiency anemia.
However, persons with thalassemia minor have a normal blood iron level (unless they
are iron deficient for other reasons). No treatment is necessary for thalassemia minor.
In particular, iron is neither necessary nor advised.
 Thalassemia major (Cooley's anemia): The child born with thalassemia major has two
genes for beta thalassemia and no normal beta-chain gene. The child is homozygous
for beta thalassemia. This causes a striking deficiency in beta chain production and in
the production of Hb A. Thalassemia major is a significant illness.

2.3 The Causes of Thalassemia

Beta thalassemia is caused by damaged or missing genes. Two specific genes are involved.
There are several types of this disorder:

 Beta thalassemia major (Cooley’s anemia) . There are two damaged genes. This is the
most severe form of this disorder. People with this condition will need frequent blood
transfusions. They may not live a normal lifespan.
 Beta thalassemia minor or thalassemia trait. Only one gene is damaged. This causes
less severe anemia. People with this type have a 50% chance of passing the gene to
their children. If the other parent is not affected, their children will also have this form
of the disorder.
 Thalassemina not spread from other people but it can causes by genetic from their
parents. People who have a Thalassemia history from the family may descend to the
kids, even it’s a major or minor.
 From the picture we know that:
a. if one of the parents carrier and have 4 children :
50% or 2 children will healty and two other will
infected but carrier.

b.if both of the parent get a carrier thalassemia and

have 4 children : 25% will get a thalassemia major,
25% will normal and 50% other will be carrier.

2.4 Symptoms of Thalassemia

Thalassemia patients have symptoms that vary depending on the type of missing amino acid
chain and the amount of loss. Patients mostly have mild anemia, especially anemia. Because it is
caused by decreased hemoglobin function in carrying oxygen of body tissue. And decreased
hemoglobin function is caused by the decrease of iron as the oxygen binder in hemoglobin.
a. Major
Individuals with beta thalassemia major usually present within the first two years till
grow up of life with :
 Severe anemia
 They don’t gain weight and can’t grow at the expected rate.
 Skeletal abnormalities during infacy
 Abnormal bones when they start to grow up.
 May develop yellowing of the skin and sklera of the eye.
 Some of them may delayed of puberty.
 Enlarged liver and spleen

b. Minor
Thalassemia minor is milder than thalassemia major. The sign and symtomp of this
kind of thalassemia appear in early chilhood or later in life. Affected individuals have
mild to moderate anemia and may also have a slow growth and an abnormalities of
bones
2.4 Treatment for Thalassemia
Thalassemia disease has no cure, but can be prevented by genetic counseling, prenatal diagnosis
and skinning of thalassemia carriers
a. Major
As we know that people with thalassemia major will have chronic anemia because their
body can not produce normal red blood. There is no treatment to cure this type of
disease because there has not been any medicine until now. But patients have to do
blood transfusions during their life to survive. Blood transfusion should be done
routinely because within 120 days the red blood cells will die.
b. Minor
Thalassemia minor lighter than thalassemia major. People with this kind of disease just
need to control their eating habits and get food with good nutrition, starting to always
do a healthy life and stay away from too salty, too sour, and fermented foods.
 CHAPTER III

3.1 conclusion

Thalassemia is a group of genetic (genetic) blood disorders that share in one common
feature, the production of damaged hemoglobin, a protein that allows red blood cells to carry and
deliver oxygen and nutrients. Thalassemia is a disease disorder inherited by parents to their children.
Thalassemia can cause mild or severe anemia. An education program on thalassemia needs to be
done, because with the education program, marriage counseling and prenatal diagnosis prevention
can be achieved. Therefore attention to thalassemia must be improved by both government and
physicians and the public.

3.2 suggestion

Society is more selective in choosing a partner, caring for people with thalassemia, and
providing motivation. The government plays an active role in socializing and launching a free blood
check program in early detection of thalassemia in order to reduce mortality.
 REFERENCES

The National Institutes of Healt (NIH).2016.Beta Thalassemia.[Online].

Tersedia:
https://www.medicinenet.com/beta_thalassemia/article.htm Diakses pada 07 mei 2018

.2018.Thassemia Beta[Online].
Tersedia:
https://ghr.nlm.nih.gov/condition/beta-thalassemia Diakses pada 15 mei 2018