THALASSEMIA

A. DEFINITION

The name Thalassemia comes from a combination of two Greek words,

namely thalassa which means sea and anemia (" weak blood "). Words Thalassa used
because this blood disorder was first encountered in patients from countries around the
Mediterranean (TIF, 2010). The term Thalassemia is now used in the hemoglobinopathic group
which is classified according to the specific globin chain in which the synthesis is disrupted
(Chen, 2006). The name Mediterranean anemia introduced by Whipple is actually inappropriate
because this condition can be found anywhere and a half type of thalassemia is usually endemic
in certain geographical areas (Pediatric Thalassemia, Medscape).

Thalassemia is a disorder of the production of reduced hemoglobin. First discovered

simultaneously in the United States and Italy between 1925-1927. The word Talasemia is
intended to link the disease to the Mediterranean population, in Greek Thalasa means
sea. (Permono, & Ugrasena, 2006)

Thalassemia is a blood disorder that is characterized by the condition of red blood cells
easily damaged or shorter in age than normal blood cells (120 days). As a result, patients with
thalassemia will experience symptoms of anemia including dizziness, pale face, frequent
weakness, sleeplessness, loss of appetite, and recurrent infections (NUCLEUS PRECISE, 2010)

Thalassemia is an autosomal recessive hemolytic anemia group, caused by a single gene

mutation, due to a disturbance in alpha or beta globin chain formation. Individual
homozygous or compound heterozygous, double heterozygous manifests as beta major
thalassemia requiring routine blood transfusion and iron therapy to maintain the quality of life
(Munthe, 1997 cit In 2009)

B. CLASSIFICATION

Hemoglobin consists of globin and hem chains but in Thalassemia there is a disruption
in the production of α or β chains. Two chromosomes 11 have one β gene on each chromosome
(a total of two β genes) while two chromosomes 16 have two α genes on each chromosome (a
total of four α genes). Therefore one Hb protein has two α subunits and two β
subunits. Normally each globin α gene produces only half of the quantity of protein produced
by the β globin gene, resulting in a balanced production of protein subunits. Thalassemia occurs
when the globin gene fails, and the production of subunit globin proteins is
unbalanced. Abnormalities in the globin gene α will cause defects in all genes, while
abnormalities in the globin β chain gene can cause a complete or partial defect (Wiwanitkit,
2007).
1. In general, there are 2 (two) types of thalassemia, namely: (NUCLEUS PRECISE, 2010)

a) Major Thalassemia, because of the dominant gene traits. Major Thalassemia is a disease
characterized by a lack of hemoglobin levels in the blood. As a result, sufferers lack red
blood which can cause anemia. Further impact , the red blood cells become damaged
quickly and their age is very short, so that they need blood transfusions to prolong their
lives. Patients with thalassemia major will appear normal at birth, but at the age of 3-18
months there will be symptoms of anemia. In addition, other symptoms can also appear
such as heart beat faster and cooley facies. Faies cooley is a distinctive feature of
thalassemia major, ie the nose stem goes in and the cheekbones protrude due to bone
marrow that works too hard to overcome hemoglobin deficiency. Patients with
thalassemia major will seem to need more special attention. In general, people with
thalassemia major must undergo blood transfusion and treatment for life. Without good
treatment, the life of a thalassemia major patient can only last about 1-8 months. How
often this blood transfusion should be done again depends on the severity of the
disease. To be sure, the heavier the disease, the more often the patient must undergo a
blood transfusion.

b) Minor thalassemia, individuals carry only the thalassemia gene, but individuals live
normally, signs of thalassemia do not appear. Although thalassemia minor is not a
problem, but if he is married to minor thalassemia there will also be a problem. Probably
25% of their children receive thalassemia major. In the lineage of this couple will appear
major thalassemia disease with a variety of complaints. Like a child becomes anemic,
weak, sluggish and often bleeds. Minor thalassemia has existed from birth and will
remain throughout the sufferer's life, but does not require blood transfusions throughout
his life

2. Molecularly differentiated thalassemia : (Behrman et al , 2004)

a) Thalassemia  (disruption of chain formation  )

b) Thalassemia  (disruption of chain formation  )

c) Thalassemia  -  (disruption of chain formation  and  the location of the gene

is thought to be close together.

d) Thalassemia  (disruption of chain formation  )

C. ETIOLOGY

Thalassemia is not an infectious disease but a genetically inherited and recessive

disease. This disease is passed down through a gene called the beta globin gene which is located
on chromosome 11. In humans chromosomes are always found in pairs. This beta globin gene
regulates the formation of one of the hemoglobin-forming components. If only next to the beta
globin gene that has an abnormality is called a beta-thalassemia carrier. A carrier of the nature
of thalassemia seems normal / healthy, because he still has 1 gene in a normal state (can function
properly). A carrier of the nature of thalassemia rarely requires treatment. If globin gene
abnormalities occur on both chromosomes, it is called a thalassemia (Homozygous / Major)
sufferer. The two diseased genes came from both parents who each carried the nature of
thalassemia. In the fertilization process, the child only gets next to the beta globin gene from
his mother and another from his father. If both parents are carriers of the nature of thalassemia,
there will be several possibilities at conception. The first possibility the child gets a changed
beta globin gene (thalassemia gene) from the father and mother, the child will suffer from
thalassemia. Whereas if the child only gets next to the thalassemia gene from the mother or
father then the child only carries this disease. Another possibility is that children get normal
beta globin genes from their parents.

Whereas according to (Suriadi, 2001) Thalassemia is a hereditary disease that cannot

be transmitted. Many are passed down by a husband and wife who have thalassemia in their
cells / genetic factors.

If both parents do not suffer from Thalassemia trait / pembacerifat Thalassemia, it is

impossible they reduce Thalassemia trait / carrier nature of Thalassemia or Thalassemia major
to their children.All their children will have normal blood.

If one of the parents suffer from Thalassemia trait / carrier of the nature of Thalassemia
while the other does not, then one in two (50%) is the possibility that each of their children will
suffer from Thalassemia trait / carrier of the nature of Thalassemia, not one of their children
will suffering from Thalassemia major. People with Thalassemia trait / carriers of the nature of
Thalassemia are healthy, they can reduce these innate traits to their children without anyone
knowing that these traits exist among their families.

If both parents suffer from Thalassemia trait / carrier of the nature of Thalassemia, then
their children may suffer from Thalassemia trait / carrier of the nature of Thalassemia or may
also have normal blood, or they may also suffer from Thalassemia major
 Scheme of Decreasing Mendelemia Thalassemia Genes

D. PATHOPHYSIOLOGY

Strength in the alpha chain is found in beta thalassemia and excess beta and gama
chains are found in alpha thalassemia. The advantages of this polypeptide chain experience
presipitation in erythrocyte cells. Precipitated intra erythrocyte globin, which occurs as an alpha
and beta polypeptide chain, or consists of Heinz's unstable body hemoglobin, damages the
erythrocyte cover and causes hemolysis. Reduction in hemoglobin stimulates bone marrow to
produce more RBC. In constant stimulation of bone marrow, continuous RBC production on a
chronic basis, and with rapid destruction of RBC, results in inadequate circulation of
hemoglobin. Excess production and destruction of RBC, causing inadequate circulation of
hemoglobin. Excess production and destruction of RBC causes the bone marrow to become thin
and easily broken or brittle.

The causes of anemia in thalassemia are primary and secondary. The primary cause is
the ineffective reduction of Hb A synthesis and erythropoesis with the destruction of
intrameduled erythrocyte cells. Secondary causes are due to folic acid deficiency,
increased intravascular plasma volume resulting in hemodilution, and destruction of
erythrocytes by the reticuloendothelial system in the lymph and liver. Biomolecular research
shows the presence of DNA mutations in genes so that the production of alpha or beta chains
of hemoglobin decreases. The occurrence of hemosiderosis is the result of a combination
of repeated transfusion , increased absorption of iron in the intestine due to ineffective
erythropoesis, chronic anemia and the process of hemolysis

Pathway
E. CLINICAL SYMPTOMS

Other signs and symptoms of thalassemia are:

1. Thalassemia Major:

 Pale
 Weak
 Anorexia
 Hard to breathe
 Cranial bone thickness
 Enlargement of the liver and spleen / hepatosplenomegaly
 Thinning of cartilage bone, bone pain
 Dysrhythmias
 Microcytic and hypochromic red blood cells
 Hb level is less than 5gram / 100 ml
 High serum iron levels
 Icteric
 Increased facial mandibular growth; narrow eyes, the base of the nose wide and
flat.

2. Minor Thalassemia
 Pale
 Normal red blood cell count
 The level of hemoglobin concentration decreases from 2 to 3 grams / 100ml
below the normal levels of moderate microcytic and hypochromic red blood cells

F. COMPLICATIONS

1. Pathology fracture
2. Hepatopslenomegaly
3. Falling disorder
4. Organ dysfunction
5. Heart failure
6. Hemosiderosis
7. Hemochromatosis
8. infection
Due to severe and prolonged anemia, heart failure often occurs. Repeated blood
transfusion and the process of hemolysis cause high levels of iron in the blood, so that it
accumulates in various body tissues such as the liver, spleen, skin, heart and others. This causes
a malfunction of the device (hemochromatosis). Large spleen is easily ruptured due to minor
trauma. Sometimes thalassemia is accompanied by signs of hyperspleenism such as leukopenia
and trompocytopenia. Death is mainly caused by infection and heart failure (Hassan and Alatas,
2002)
G. SUPPORTING INVESTIGATION

1. Blood Edge: low Hb level, high reticulocyte, platelet count is within normal limits
2. peripheral blood smear: microcytic hypochrome, anisopholkilocytosis, polycromasia target
cells, normoblas. Pregmentocytes
3. Bone sum sum function: normoblastic hyperplasia
4. Serum iron levels increase
5. Indirect bilirubin increases
6. Fe hemoglobin levels increase in thalassemia major
7. Hb A2 levels increase in minor thalassemia

I. MEDICAL MANAGEMENT

According to (Suriadi, 2001) Medical management of Thalassemia includes :

 Transfusion until Hb reaches 9-10g / dl. Complications of excessive blood transfusion

will cause iron buildup called hemosiderosis. Hemosiderosis can be prevented by giving
deferoxamine (Desferal), which functions to remove iron from the body ( iron chelating
agent). Secar deferoxamine is given intravenously, but to prevent a long
hospitalization can also be administered subcutaneously in more than 12 hours.
 Splenectomy: performed to reduce pressure on the abdomen and increase the life span
of red blood cells derived from supplements (transfusions).
 In severe thalassemia routine blood transfusions are needed and additional folic acid is
given. Patients who undergo transfusions must avoid additional iron and oxidative drugs
(such as sulfonamides), because excessive iron can cause poisoning. In very severe
forms, bone marrow transplants may be needed. Genetic therapy is still in the research
stage

J. ASSESSMENT

1. Origin of descent / citizenship

Thalassemia is common in nations around the Mediterranean (Mediterranean). Like Turkey,

Greece, Cyprus, etc. In Indonesia alone, thalassemia is quite common in children, it is even
the most common blood disease.

2. Age

In major thalassemia whose clinical symptoms are clear, these symptoms have been seen
since the child is less than 1 year old. Whereas in minor thalassemia whose symptoms are
milder, usually new children come for treatment at around 4-6 years of age.
3. Child health history
Children tend to get upper respiratory infections more easily. This is easy to understand
because of the low Hb that functions as a transport tool.
4. Growth and development
Frequently obtained data regarding the tendency of disorders of growth and development
since the child is still a baby, because of the influence of chronic tissue hypoxia. This occurs
especially for thalassemia major. Child's physical growth is small for his age and there is a
delay in sexual maturity, such as no growth of pubic and armpit hair. Children's intelligence
can also decline. But in the type of minor thalassemia, growth and development of normal
children are often seen.
5. Dietary habit
Because of anorexia, children often experience difficulty eating, so that the child's weight
is very low and not according to his age.
6. Activity pattern
Children look weak and not as agile as their children. The child sleeps / breaks a lot, because
when doing activities like a normal child it's easy to feel tired
7. Family health history
Because it is a hereditary disease, it is necessary to study whether parents who suffer from
thalassemia. If both parents suffer from thalassemia, their child is at risk of developing
thalassemia major. Therefore, premarital counseling actually needs to be done because it
serves to determine the existence of a disease that may be caused by heredity.
8. Maternal history during pregnancy (Ante Natal Core - ANC)
During Pregnancy, it should be studied in depth the risk factors for thalassemia. Often
parents feel that they are healthy. If a risk factor is suspected, then the mother needs to be
informed about the risks that may be experienced by her child later after birth. To ensure a
diagnosis, the mother is immediately referred to a doctor.
9. Data on the physical state of thalassemia children that are often obtained include:

a) General condition

Children usually look weak and lack enthusiasm and are not as agile as their
normal age.

b) Head and face shape

Children who have not / do not get treatment have a distinctive form, namely
the head is enlarged and the shape of the face is Mongoloid, which is a snub
nose with no nose, the distance between the eyes is wide, and the forehead bone
looks wide.
 c) The eyes and conjunctiva look pale yellowish

d) Mouth and lips look pale blackish

e) Chest

On inspection it appears that the left chest is prominent due to an enlarged heart
caused by chronic anemia .

f) Stomach

It looks bulging and at the touch there is an enlargement of the spleen and
liver (hepatosplemagali ).

g) Her physical growth is too small for her age and her BB is less than normal. The
physical size of the child looks smaller when compared to other children his
age.

h) Growth of secondary sex organs for children at puberty There are delays in
sexual maturity, for example, the absence of hair growth in the armpits, pubis,
or mustache. Even the child may not reach the adolesense stage due to chronic
anemia.

i) Skin
Color pale yellowish skin. If the child has frequent blood transfusions, the color
of the skin becomes gray like iron due to the accumulation of iron in the skin
tissue (hemosiderosis).

K. NURSING DIAGNOSIS

1. The ineffectiveness of tissue perfusion is related to reduced cellular components that deliver
oxygen / nutrients

2. Activity intolerance and unbalance of oxygen demand and supply

3. Risk For Infection Related to inadequate secondary defense, decreased hemoglobin,

leukopenia or decreased granulocytes
L. NURSING PLAN

No DIAGNOSI NURSING PLAN

. S
AIM INTERVENTION

1. The NOC NIC

ineffectivene
 Network Perfusion : Periphe Monitor Vital Signs
ss of tissue
ral
perfusion is Definition: Collect and analyze the
 Circulation status
the reduction cardiovascular, respiratory and

in cellular Result Criteria: temperature systems to determine

components and prevent complications

The client shows adequate tissue
that deliver perfusion as indicated by the Activities:
oxygen / presence of peripheral pulse, dry
1. Monitor blood pressure , pulse,
nutrients and warm skin, adequate urine
temperature and RR every 6
output, and no respiratory
hours or as indicated
distress.
2. Monitor breathing frequency
and rhythm
3. Monitor abnormal breathing
patterns
4. Monitor skin temperature, color
and humidity
5. Monitor peripheral cyanosis

2. Monitor neurological status

Definition : Collect and analyze

patient data to minimize and
prevent neurological complications

Activities:

1. Monitor size, shape, symmetry,

and pupillary reactivity
2. Monitor the level of client
awareness
3. Monitor orientation level
4. GCS monitor
5. Monitor patient response to
treatment
 6. Inform the doctor about changes
in the patient's condition

Liquid management

Definition: Maintain fluid balance

and prevent complications due to
abnormal fluid levels.

Activities:

1. Record fluid intake and output

2. Assess for signs of dehydration
(poor skin turgor, sunken eyes,
etc.)
3. Monitor nutritional status
4. Prepare transfusion (such
as checking the blood with the
patient's identity, preparing the
transfusion device)
5. Watch for blood / transfusion
components
6. Watch client response
during component delivery bl
ood
7. Monitor laboratory results (Hb
level, serum iron, platelet count)

2. Activity NOC NIC

intolerance
 Energy Conservation Energy management
and
 Self Care: ADL
unbalance of Definition: Regulates energy use to

oxygen Result Criteria: prevent fatigue and optimize

demand and function

• Clients can carry out the
supply recommended activities Activities:
while maintaining blood
1. Determine the limitations of the
pressure, pulse, and respiratory
patient's physical activity
frequency in the normal range
2. Assess patient's perception of
the causes of fatigue they
experience
3. Encourage disclosure of clients'
concerns about physical
weakness
4. Monitor nutritional intake to
ensure sufficient energy sources
5. Consult with a nutritionist about
how to increase energy through
food
6. Monitor cardiopulmonary
response to activities (such as
tachycardia, dyspnea,
dysrhythmias, diaporesis,
respiratory frequency, skin
color, blood pressure)
7. Monitor sleep patterns and
quantities
8. Help patients schedule breaks
and activities
9. Monitor the patient's
oxygenation response during
activity
10. Teach patients to recognize
signs and symptoms of fatigue
so that they can reduce their
activity.

Oxygen therapy

Definition: Manage the

administration of oxygen and
monitor its effectiveness

Activities:

1. Clean the mouth, nose,

trachea if there is a secret
2. Maintain patency of the
airway
 3. Arrange oxygenation
devices including
humidifiers
4. Monitor oxygen flow
according to the program
5. Periodically, monitor the
accuracy of tool installation

3 Risk For NOC NIC

Infection
Result criteria : 1. Monitor signs / symptoms of
Related to
infection (for example, body
inadequate 1. The client is able to identify
temperature, heart rate, skin
secondary behavior to prevent / reduce
temperature, fatigue and
defense, the risk of infection
malaise)
decreased 2. b. Patients show risk control
2. b. Assess factors that increase
hemoglobin, as evidenced by their clinical
infection attacks
leukopenia or indicators, changing
3. c. Explain to patients and
decreased lifestyles to reduce the risk
families why illness and
granulocytes of infection
treatment increase the risk of
3. c. Free from signs or
infection.
symptoms of infection
4. d. Teach patients the correct
4. d. There is no purulent
hand washing technique
drainage or erythema
5. e. Teach patients and family
5. e. There is an increase in
signs / symptoms of infection
wound healing
and when to report it to health
centers
6. f. Give antibiotic therapy if
needed

-
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Suriadi S.Kp and Yuliana Rita S.Kp, 2001, Child Nursing Care, Edition I. PT Fajar Interpratama:
Jakarta.

McCloskey, JC, 1996. Nursing Intervention Classification (NIC). 2 nd Edition. Mosby Year
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North American Nursing Diagnosis Association., 2001. Nursing Diagnoses: Definition &
Classification 2001-2002 . Philadelphia.

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