Medical Pediatric Area(GB1)

Thalassemia

Under supervision
PROF DR/REDA ELFESHAWY
CI/ YASMEEN GAMAL

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 Prepared By:
• Mostafa Mohamed Shehata
• Mostafa Mohamed El-Sheikh
• Mostafa Mahmoud GAPALLAH
• Mostafa Mahmoud Al-kady
• Mostafa Mahmoud Basha
• Mostafa Nabwy Bakheet
• Mostafa Nabil Syrag
• Mostafa Hesham Elzayat
• Moaz Shaban Ramadan
• Moataz Mohammed Abdelmordy

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 Outlines:-
▪ Introduction
▪ Definition
▪ Pathophysiology
▪ Types
▪ Risk factors
▪ Couses
▪ Clinical manifestations
▪ Complications
▪ Diagnosis
▪ Prevention
▪ Treatment
▪ Nursing management
▪ Reference

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Introduction:-
The Thalassemia are a group of inherited hematologic
disorder coused by defects in the synthesis of one or more of
the hemoglobin chains .This characterized by less
hemoglobin and fewer red blood cells in your bodythan
normal
• Red blood cells carry oxygen to all the cells of the body
• Oxygen is a sort of food that cell use to function .
• When there are not enough healthy red blood cells
,there is also not enough oxygen delivered to all the
other cells of the body ,which may couses aperson to
feel tired ,weak ,or short of breath.
• This condition called anemia,people with Thalassemia
may have mild or sever anemia,severe anemia can
damage organs and lead to death.

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Definition:-
Thalassemia is an inherited (i.e., passed from parents to
children through genes) blood disorder caused when thebody
doesn’t make normal or adequate amount of hemoglobin
,hemoglobin is the protein in red blood cells that carry oxygen,
the disorder results in large numbers of red blood cells being
destroyed, which leads to anemia.
Pathophysiology:-
Hemoglobin consists of an iron -containing heme ring
and four globin chains :2alpha and 2beta. In beta thalassemia
there is partial or complete deficiency in thesynthesis off the
beta chain of the hemoglobin molecules. Consequently, there
is a compensatory
Increase in the syntheses of alpha chain and chain
production remains activated, resulting in defective
hemoglobin formation. This unbalanced polypeptides unit is
very unstable, when it disintegrates it damage RBCs causing
severe anemia. If untreated, additional complications can
develop. Beta thalassemia major can cause the bone marrow,
the spongy material within certain bones, to expand.
Bone marrow is where most of the blood cells are
produced in the body. The bone marrow expands because it is
trying to compensate for chronic anemia, Abnormal
proliferation of bone marrowcells, independent of
hematopoietic lineage, is associated with bone loss.
In severe thalassemia, ineffective erythropoiesis causes
a bone marrow

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expansion by a factor of up to 30 times, which is not fully
cancelled even with an optimal transfusion regimenThe
genetic defect in thalassaemia also results in formation of
ineffective red blood cells, which are removed by the spleen
which in turn becomes enlarged.Removing the spleen can
lengthen the lifespan of red blood cells and reduce the need
for transfusions

There are two main type of Thalassemia :differentGene's

are affected for each type
Types:-
1- Alpha Thalassemia
Alpha Thalassemia occur when some or all of the 4
Gene's that make hemoglobin (the alpha-globin
genes)are missing or damaged.
There are 4 type of Alpha Thalassemia
• Alpha Thalassemia silent carrier:-
(one gene mutation ,no signs or symptoms but may pass
thedisease on to children

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• Alpha Thalassemia minor or trait(two gene
mutation, mild signs and symptoms
• Alpha Thalassemia intermedia or hemoglobin H disease
(three gene mutation, moderate to sever severe
symptoms
• Alpha Thalassemia major or hydrops details(four gene
mutation, often fatal before or shortly after child birth .
2- Beta Thalassemia
Beta Thalassemia occur due to insufficient of beta
hemoglobin chains and an excess of alpha chains . A
number of gene mutation corresponds to the severityof
the condition as following:-
o Beta Thalassemia minor or beta Thalassemia trait(one
gene mutation, mild sign or symptoms.
o Beta Thalassemia intermedia, people with beta
Thalassemia intermedia have moderately sever
anemia and some will need regular blood transfusions
and other medical treatments, theblood transfusions
delivery healthy hemoglobinand RBCs to the body.
o Beta Thalassemia major or Cooley's anemia(twogene
mutation, moderate to sever symptoms
Causes
Thalassemia is caused by mutationsin the DNA of cells
that make hemoglobin the substancein red blood cells that
carries oxygen throughout your body. Themutations
associated with thalassemia are passed from parents to
children.

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Riskfactors
• Factors that increase your risk of thalassemia include:
Family history of thalassemia.
• Thalassemia is passed from parents to Children through
mutated hemoglobingenes.
• Certain ancestry. Thalassemia occurs most often in
African Americans And in people of Mediter raneann
and Southeast.
The clinical manifestation of thalassemia…

The symptoms can vary from one to oneThese can

include:
▪ Slow growth in children
▪ Wide or brittle bones
▪ Enlarged spleen (an organ in your abdomen thatfilters
blood and fights disease)
▪ Fatigue
▪ Weakness

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▪ Pale or yellow skin
▪ Dark urine
▪ Poor appetite
▪ Heart problems
IT TYPICALLY CAUSES:
• tiredness and a general lack of energy
• shortness of breath
• pounding, fluttering or irregular heartbeats (palpitations)
• pale skin
• yellowing of the skin and eyes (jaundice)
Complications of Thalassemia
(a) Complications of blood transfusion: Infectious
Complication such as hepatitis B angd C and
noninfectious complications such as thrombocytopenia
and coagulation factor deficiency, cardiovascular
complications as volume overload, congestive heart
failure
(b) Complications of iron over load: Growth retardation,
failure of sexual maturation, heart failure, liver fibrosis
and cirrhosis, diabetes mellitus.
(c) Complications of splenectomy: Deep vein thrombosis(DVT
overwhelming infection
(d) Complications of bone marrow transplantation such as
sepsis, graft versus-hot disease, cataracts (due to
radiation treatment)

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Diagnostic test for thalassemia:
Doctors diagnose thalassemias using blood tests, including a
complete blood count (CBC) and specialhemoglobin tests.
1- A CBC :-measures the amount of hemoglobin and the
different kinds of blood cells, such as red bloodcells, in a
sample of blood. People who have thalassemias have fewer
healthy red blood cells and less hemoglobin than normal in
their blood
2- Hemoglobin tests :-measure the types of hemoglobin in a
blood sample. People who have thalassemias have
problems with the alpha or betaglobin protein chains of
hemoglobin.
3- The Genetic Testing Registry (GTR):-provides information
about the genetic tests for this condition.
4- tests done on the fluid or tissue can show weather your
baby has thalassemia and how severe it mightbe.
Prevention of thalassemia:
Currently, thalassemia cannot be prevented because it is
an inherited (passed down from parents to the child) blood
disorder. It is possible to identify carriers of this disorder with
genetic testing.
Treatment :-
Mild forms of thalassemia trait don’t need treatment.
For moderate to severe thalassemia, treatments might include:
Frequent blood transfusions.
More severe forms of thalassemia often Require
frequent blood transfusions, possibly every few weeks. Over
Time, blood transfusionscause a buildup of iron in your blood,

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which Can damageyour heart, liver and other organs.
Chelation therapy.
This is treatment to remove excess iron from your
Blood. Iron can build up as a result of regular transfusions.
Some people With thalassemia who don’t have regular
transfusions can also develop Excess iron. Removing the
excess iron is vital for your health.To help rid your body of the
extra iron, you mightneed to take an oral Medication, such as
deferasirox (Exjade, Jadenu) or deferiprone
(Ferriprox). Another drug, deferoxamine (Desferal), isgiven
by needle.
Stem cell transplant.
Also called a bone marrow transplant, a stem cell
Transplant might be an option in some cases. For children with
severe Thalassemia, it caneliminate the need for lifelong blood
transfusions
Splenectomy :
Is a surgical procedure to remove your spleen. The
spleen is an organ Helps fight infection and filters
unneeded material, such as old or Damaged blood cells,from
your blood . That sits under your rib cage on the upper left It
Helps fight infection and filters unneeded material, such as
oldor Damaged blood cells, from your bloodside of your
abdomen. It Helps fight infection and filters unneeded
material, such as old or Damaged blood cells, from your blood

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Nursing Diagnosis
1. Alter in tissue perfusion related to thalassemia as
manifested by late in capplilry time, pale face,
2. Ineffective breathing pattern related to thalathemiaas
manifested by shallow breathing, tachypnea,tachycardia
3. Imbalanced nutrition: less than body requirementsrelated
to insufficient dietary intake as evidenced by body weight
20% below ideal weight range and food intake less than
recommended daily allowance.
4. Activity intolerance related to anemia, thalathemiaas
manifested by fatigue,generalized weakness
5. High risk for bleeding related to alter in cloting factor

6. High risk for infection

7. Health education .
Nursing management
Nursing interventions for a child with thalassemia are:-
Ineffective breathing pattern related to Thalassemia as
manifested by shallow breathing, tachycardia, tachypnea.
✓ Monitor sign of hypoxia such as cyanosis, hyperventilation,
increase pulse, breath frequencyand B.P.
✓ Provide frequent rest periods to reduce oxygen
consumption.
✓ Provide oxygen therapy to patients.
✓ Monitor vital sign.
✓ Monitor pulse oximetry
✓ Observe any restlessness and confusion.

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✓ provide medication as order .
✓ Monitor child closely for respiratory failure.
Activity :-
Assist the client in planning and prioritizingactivities of
daily living (ADL) .
assist the client in developing a schedule for dailyactivity
and rest.
 stress the importance of frequent rest periods.
Assess the capability of doing activity.
Monitor vital sign before & after the activity.
Create a schedule to perform the activities.
 stop activities if pulse, BP, respiration, fatigue ordizziness
will increase.
Provide frequent rest periods to reduce oxygen
consumption.
Nutrition : -
• Maintain fluid & nutritional requirement as needed
• Allow to eat food that can be tolerated to improve the
nutritional quality at the appetite increase.
• Provide nutritious food which include high caloric, high
sotein, vitamin and minerals.
• Check the weight daily.
• Provide IV fluid if not able to take by mouth.
Health education:
❖ Explain the importance of the diagnostic procedures (such
as complete blood count), bone marrow aspirationand a

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 possible referral to a hematologist.
❖ Explain the hematological vocabulary and the functions of
blood elements, such as white blood cells, red blood cells,
and platelets.
Prevent infection:
 Assess for local or systemic signs of infection, such as
fever, chills, swelling, pain, and body malaise.
 Instruct the client to avoid contact with people with
existing infections.
 Instruct the client to avoid eating raw fruits and
vegetables and uncooked meat.
 Prevent nosocomial infection by good hand washing.
 Stress the importance of daily hygiene, mouth care, and
perineal care.
 Teach the client and visitors the proper hand washing.
Prevent bleeding:
Assess for any frank bleeding from the nose, gums, vagina, or
urinary or gastrointestinal tract and monitorplatelet count.

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Reference
https://www.google.com/url?sa=t&source=web&rct=j&
url=https://www.healthline.com/health/thalassemia&ve
d=2ahUKEwj1yb_fwuH0AhUI_BQKHf75CGAQFnoECAUQ
BQ&usg=AOvVaw2Shwc3v1lMw6HlKATXKoAK
https://www.google.com/url?sa=t&source=web&rct=j&
url=https://www.cochrane.org/CD010517/CF_removal-
spleen-people-thalassaemia-major-and-
intermedia&ved=2ahUKEwjQ9cK-
weH0AhVCA2MBHYSNDF8QFnoECAUQBQ&usg=AOvVa
w2IYAmJspjZig4zfauE-JqM
https://www.google.com/url?sa=t&source=web&rct=j&
url=https://rarediseases.org/rare-diseases/thalassemia-
major/&ved=2ahUKEwiirpe6wuH0AhXlAWMBHc9HAV8
QFnoECAQQBQ&usg=AOvVaw2_WdKBSA6mO8vKG56- 8T1F
https://medlineplus.gov
https://www.google.com/url?sa=t&source=web&rct=j&
url=https://en.m.wikipedia.org/wiki/Thalassemia&ved=
2ahUKEwj1yb_fwuH0AhUI_BQKHf75CGAQFnoECBUQAQ
&usg=AOvVaw3YBt916FB2ph0cNdYML49h
https://www.google.com/url?sa=t&source=web&rct=j&
url=https://www.cdc.gov/ncbddd/thalassemia/facts.ht
ml&ved=2ahUKEwj1yb_fwuH0AhUI_BQKHf75CGAQFnoE
CDAQAQ&usg=AOvVaw1b8Fg62j47YUdfOqtybbOV

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