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FOUNDATION INC.
College of Nursing
A CASE PRESENTATION
OF THALASEMMIA
Submitted by:
Alguno, Isabel S.
Antam, Jenalyn
Bustaliño, Reyvan-J R.
Canong , Steffi Aubrey B.
Dagatan, Alexa Marie T.
Dizon, Angela Novem C.
Fernandez, Rose Pearl T.
Jacobe Myerde Twelvie B.
Nadela, Ma. Sophia Gicile B.
Paez, Nicole Adrienne C.
Solitian, Brian M.
Yorong, Jezza Mae P.
Submitted To:
Maria Rose O. Alarin, RN, MN
Ma. Liberty A. Naquila, RN, MN
Mirasol R. Reyes, RN, LPT, MPA
Table of Contents
I. Objectives………………………………. 1
II. Patients Profile…………………………. 2
III. Physical Assessment ……..…………… 3
IV. Introduction …………………………… 5
V. Terminologies………………………….. 6
VI. Anatomy & Physiology…………………9
VII. Pathophysiology……………………..10
VIII. Laboratory Finding & Result …….. 13
IX. Drug Study …………………………….19
X. Nursing Care Plan …………………… 23
XI. Related Readings…………………… 36
XII. General Evaluation…………………. 37
XIII. References……………………………38
I. OBJECTIVES
General Objectives
After 2 hours of case presentation the nursing students will be able to have a deeper
understanding of thalassemia, discover and hone their skills and take immediate measures and
perform proper care of patients with this condition through the student nurse's knowledge
understanding of this study.
Specific Objectives
After 2 hours of case presentation, the nursing students will be able to:
PATIENT- CENTERED
• To acquire medical information about the present health condition of the patient.
• To determine the patient’s health history.
• To determine the cause for hospitalization.
• To obtain detailed knowledge and diagnose the disease properly by observing the sign
and symptoms presented by the patient.
• To formulate proper nursing care plan and help the patient alleviate the stress of her
present condition.
STUDENT-CENTERED
• To educate the patient about the cause of the condition and give proper interventions to avoid
complications.
II. PATIENTS PROFILE
Hospital: Corazon C. Aquino Hospital
Patient’s Name: Elis, Ivan Nicole
Age: 2 Years old
Sex: Male
Body Weight : 9.8 kg
Birthdate: May 19, 2022
Address: P. Sentro Denoyan , Zamboanga Del Norte
Civil Status: Child
Religion: Roman Catholic
Nationality: Filipino
Date of Admission: November 4, 2022
Time of Admission: 11:00 AM
Accommodation: Pediatric Ward
Admitting Physician: Dr. Chan
History of Present Illness : Fever
Chief Complaints: Fever, Irritability
Final Diagnosis: Thalassemia
Intravenous Fluids:
Vital Signs:
Blood type : B+
Medications: Furosemide
III. PHYSICAL ASSESSMENT
General Assessment: The patient is awake and aware of his surroundings. He is attentive and
irritable . Vital Signs taken upon physical assessment are as follows: Temp: 36.3 C, PR: 81 rpm,
RR: 18 cpm BP: 129/72 mmHg.
Thalassemia are genetic disorders in globin chain production, inherited autosomal recessive
blood disease. In thalassemia, the genetic defect results in reduced rate of synthesis of one of the
globin chains that make up hemoglobin. Reduced synthesis of one of the globin chains causes the
formation of abnormal hemoglobin molecules, and this in turn causes the anemia which is the
characteristic presenting symptom of the thalassemia.
TYPES OF THALASSEMIA
FACTS
• Thalassemia is a serious Inherited Blood Disorder.
• 4.5% of world population (250 million) is thalassemia minor.
• 10,000-12,000 children with thalassemia are born every year in our country
and about 600 in Andhra Pradesh
• Survival depends upon repeated blood transfusion & administration of
expensive medicines.
• Fatigue
• Weakness
• Pale or yellowish skin
• Facial bone deformities
• Slow growth
• Abdominal swelling
• Dark urine
CAUSES
Thalassemia is caused by mutations in the DNA of cells that make hemoglobin — the
substance in red blood cells that carries oxygen throughout your body. The mutations
associated with thalassemia are passed from parents to children.
RISK FACTOR
Family history
COMPLICATIONS
PREVENTION
Not preventable
TREATMENT
LIFESTYLE
Blood - is a vital fluid that brings nourishment to the body’s organs and tissues and carries away
waste substances.
Blood Transfusion - the process of transferring blood products into a person circulation
intravenously.
Bone Marrow - the soft blood-forming tissue that fills the cavities of bones and contains fat and
immature and mature blood cells, including white blood cells, red blood cells, and platelets.
Chromosomes - are thread-like structures located inside the nucleus of animal and plant cells.
Hemoglobin - the protein molecule in red blood cells that carries oxygen from the lungs to the
body’s tissues and returns carbon dioxide from the tissues to the lungs.
Platelets -are small, colorless cell fragments in our blood that form clots and stop
bleeding.
Red Blood Cells - referred to as red cells, most common type of blood cell delivering oxygen to
the body tissues.
Thalassemia Intermedia - caused by one of the more severe thalassemic genes combined with
Thalassemia Major - occurs when a child inherits two mutated genes, one from each parent.
White Blood Cells - working as the body’s first line of defense against invading infectious
agents.
Alpha thalassemia - a type of thalassemia (Red blood cell disorder) that is specifically due to
Blood is a specialized body fluid. It has four main components: plasma, red blood cells, white
blood cells, and platelets. Blood has many different functions, including:
Þ Plasma - It is a mixture of water, sugar, fat, protein, and salts. Approximately 90 percent
water. It is the liquid part of the blood. It is to transport blood cells throughout your body
along with nutrients, waste products, antibodies, clotting proteins, chemical messengers
such as hormones, and proteins.
Þ Red Blood Cells (erythrocytes or RBCs) - Known for their bright red color, red cells are
the most abundant cell in the blood, accounting for about 40 to 45 percent of its volume.
Þ White Blood Cells (leukocytes) - White blood cells protect the body from infection. They
are much fewer in number than red blood cells, accounting for about 1 percent of your
blood.
Þ Platelets (thrombocytes) - Unlike red and white blood cells, platelets are not actually cells
but rather small fragments of cells. Platelets help the blood coagulationby gathering at the
site of an injury, sticking to the lining of the injured blood vessel, and forming a platform
on which blood coagulation can occur.
HEMOGLOBIN
It is a globular protein belonging to the group of hemeproteins. Such globular proteins have a
heme group tightly bound to the protein structure.
Hemoglobin is a carrier for oxygen from the lungs to the various tissues and carbon dioxide
from other parts of the body to the lungs. About 70% of the body’s iron is present in the red
blood cells in the form of hemoglobin.
Hemoglobin is an iron-protein complex that gives red blood cells its red color. It is made up
of heme, which is the iron-containing portion, and globin chains, which are proteins. The globin
protein consists of chains of amino acids, the “building blocks” of proteins.
There are several different types of globin chains, named alpha, beta, delta, and gamma.
Structure of Heme: Heme is a chemical structure made up of a porphyrin ring with an iron atom
inserted in the center. Each heme is a red- pigment molecule containing one iron atom.
These four globin chains combine in different ways to give rise to different kinds of Hemoglobin
Types of Hemoglobin:
Þ Hemoglobin F or HbF - where F stands for fetal hemoglobin. It is made of 2 Alpha globin
and 2 Gamma globin chains. It is the major hemoglobin during fetal life. after birth, the
gamma-globin chains can no longer be made, and its concentration drops. In an adult
human, the concentration of HbF is only 2% of the total hemoglobin.
Þ Hemoglobin A or HbA - is the major form of adult hemoglobin - made of 2 Alpha-globin
and 2 Beta-globin chains.
Þ Hemoglobin A2 or HBa2 - amounts for a small fraction of adult hemoglobin in the blood
- made of 2 Alpha-globin and 2 Delta-globin chains
Þ HbA1C - is one of the many glycosylated hemoglobin present in the body. It is made up
of two alpha and two beta chains but is in glycosylated form. Its concentration varies
from 3%-9% of the total hemoglobin in our body. HbA¬1C also indicates the blood
glucose levels in the past three months.
VII. PATHOPHYSIOLOGY OF BETA THALASSEMIA MAJOR
Modifiable: Non-Modifiable
-None -Positive family health
history of Thalassemia
-Ethnicity
MUTATION OF THE β-
GLOBIN GENES
2 types:
Partial/ complete deficiency Major and Minor
in β-globin and HbA
Symptoms:
Weakness Anemia
Shortness of breath
Clinical Manifestations:
Nursing intervention:
-General Weakness and fatigue
-Teach breathing
-Slow growth
exercises
-Pallor
-Bed rest
-Jaundice
-Dark urine
-Hepatomegaly
-Splenomegaly
-Irritability
BETA-THALASSEMIA
MAJOR
Death
VIII. LABORATORY FINDING AND RESULT
Patient Name: Elis, Ivan Nicole Age: 2
HEMATOLOGY
N/A
EOSINOPHILS 5 0.5-7.0 Normal
Normal N/A
MONOCYTES 10 4.0-12.0
Normal N/A
BASOPHILS 0 0.0-2.0
BLOOD TRANSFUSION
Generic Timing Mechanism Indications Contra- Side Effects Adverse Effects Nursing Patient
Brand Dose Of indicatio Responsibilities Teaching
Drug Class Frequency Action ns
Route
• Inhibits the Edema due to CNS: Headache, • Assess patient’s • Teach patient to
Adult: PO 20- Skin rash
Generic: re- heart failure, fatigue, weakness, underlying condition take the
Furosemide 80 mg/day in absorption hepatic Hypersen Hypergly vertigo before starting medication early in
am, may give of sodium impairment, or sitivity therapy the day to prevent
another dose in -cemia
and chloride renal disease CV: Orthostatic nocturia.
6 hrs, up to 600 from the Breastfee • Hearing hypotension, chest • Assess patient for • Instruct the patient
Brand: mg/day; IM/IV loop of Hypertension ding pain, tinnitus, hearing to take with food
20-40 mg, impairme
Lasix henle and loss, ear pain or milk if GI
increased by 20 distal renal Pregnanc nt, EENT: Loss of symptoms of
mg q2hr until tubule. y hearing, ear pain, • Monitor for renal nausea and
desired response tinnitus
• Increases Hepatic tinnitus, cardiac, anorexia occur
Class: Child: renal coma or and blurred vision neurological, GI
Loop PO/IM/IV 2 excretion of anuria manifestation of • Advise patient to
mg/kg, may deafness
Diuretic water, Diabetes ENDO: hypokalemia. wear protective
increase by 1-2 sodium, mellitus Hyperglycemia ² Monitor for clothing and
mg/kg/q6-8hr chloride, GI: Nausea, hyponatremia. sunscreen to
up to 6 mg/kg magnesium. diarrhea, dry • Monitor for prevent
Potassium, mouth, vomiting, manifesta tions of photosensitivity.
and calcium anorexia, cramps, hyperchloremia:
Antihypercalce • Effectivenes oral or gastric weakness, lethargy,
mia s persists in irritations, deep rapid breathing
Adult: IM/IV impaired Pancreatitis • Assess fluid volume
80-100 mg q1- renal status: I&O like
4hr or PO 120 function. GU: Polyuria, renal weigh diapers as
mg/ failure, glycosuria, appropriate.
day or divided bladder spasms
bid • Assess B/P before
Child: IM/IV Therapeutic HEMA: and during therapy
25-50 mg, effect(s) Thrombocytopenia, lying, standing, and
repeat q4hr if • Diuresis and agranulocyto- sitting as
needed subsequent sis, leukopenia, appropriate.
mobilizatio neutropenia, anemia
Acute/chronic n of excess
renal failure fluid Rash, pruritus,
Adult: PO 80 (edema, purpura, Stevens-
mg/day, pleural Johnson syndrome,
increase by 80- effusions). sweating,
120 mg/ • Decreased photosensitivity,
day to desired BP Urticaria
response; IV
100-200 mg, MS: Cramps,
max stiffness
600-800 mg
Available
forms: Tabs 20,
40, 80 mg; oral
sol 8 mg/ml, 10
mg/ml; inj IM,
IV 10 mg/ml
X. NURSING CARE PLAN (1)
ASSESSMENT DIAGNOSIS PLANNING INTERVENTION RATIONALE EVALUATION
Subjective: Activity After 8 hours - Monitor and record vital - This is to assess of the After 8 hours of
"dili na kaayo tig intolerance of nursing signs patient's improvement nursing
dulaan akong anak related to interventions, of its condition and it interventions,
kay malipong man muscle the patient will serves as baseline data the patient was
daw siya" as weakness as be able to able to
verbalized by the evidenced by participate in - Note patient's report of participate in
mother. physical any activities weakness, fatigue and pain - To know if there's any any activities
Objective: inactivity, low without feeling changes on patients without feeling
Patient hgb count (6.0), weak condition specially in weak
manifested the low hematocrit - Identify activity need or physical aspects.
following: count (18.0) desired
- Body weakness - To determine patient's
restlessness capacity in doing the
- Physical - Plan care with rest period activities.
inactivity between activities
- Low hgb count - Rest between
(6.0) - Promote comfort activities provides time
- Low hematocrit measure for relief from for energy conservation
count (18.0) pain and recovery
- Paleness - Use portable pulse - This is to motivate the
oximetry to assess for patient
oxygen desaturation during - May determine the
activity. use of supplemental
oxygen to help
compensate for the
- Assess the need for increased oxygen
ambulation aids (e.g., cane, demands during
walker) for ADLs. physical activity.
- Assistive devices
- Observe and document enhance the mobility of
response to activity. the patient by helping
him overcome
- Assess emotional limitations.
response to limitations in - Close monitoring will
physical activity. serve as a guide for
optimal progression of
activity.
Subjective: Self-care After 8 hours - Assessed patient's ability to - This is to provide After 8 hours of
“ usahay maligo, deficit related of nursing perform ADL's, providing information about the nursing
usahay pud dili. to inability to interventions, assistance as necessary amount of energy and interventions,
Busy man gud ko perform ADL the patient especially during tasks effect of illness on the patient was
mao di kaayo ma as evidenced will be able to requiring activity level able to perform
atiman” as by inability to perform - Provide personal care for personal hygiene
verbalized by the wash body, personal the child; assist child and - This is to provide within level of
mother take off or hygiene adjust times and methods to needed assistance own ability
Objectives: put on within level of fit home routine where using patterns
- Skin is dry clothing own ability and articles that
- Dirty feet encourage the parent
- Nail in toes and to assist the child.
hands are - Anticipate child’s needs for
untrimmed toileting, feeding, brushing - This is to prevent
- Dirty hair and skin teeth, bathing and other care embarrassing
- Unpleasant odor if unable to manage on own; experiences with
noted allow the child to do as much toileting and maintains
as possible. comfort with personal
- Praise the child for cleanliness and
participation in own care appearance.
according to age, - This is to promote
developmental level, and self-esteem and
energy. independence.
- Balance activities with rest
as needed; place needed
articles and call light within - This is to prevent
reach if appropriate. fatigue by conserving
- Provide assistive aids or energy and promoting
devices to perform ADL, allow rest.
choices when possible. - This is to assists child
- Encourage rest and quiet in performing self-care
periods. for ADL.
- This is to ensure
- Instruct parents to interpret proper rest and
child’s needs if the child is too prevents fatigue.
young to talk.
- This is to provide
- Provide instructions in anticipatory care for
bathing, hygiene, toileting, the child.
feeding, dressing while in
hospital environment and - This is to promote
inform of differences from performance of ADL
home care and methods as skills already known by
needed. child.
- Encourage parents to assist
the child in ADL but to allow
the child as much - This is to promote
independence as condition independence and
permits; inform parents that a some control by the
place is provided for their child without
personal needs in order to separating the child
allow them to remain with from parents.
the child.
X. NURSING CARE PLAN (3)
ASSESSMENT DIAGNOSIS PLANNING INTERVENTION RATIONALE EVALUATION
Subjective: Ineffective After 8 hours - Establish rapport - To promote After 8 hours of
"Sige ug kalipong tissue of nursing cooperation nursing
akong anak" as perfusion interventions, - Monitor vital signs - To have a baseline interventions,
verbalized by the related to the patient's - Monitor signs of hypoxia data the patient's
mother reduce cellular tissue such as hyperventilation, - This is to assess the tissue perfusion
Objective: components perfusion will increased pulse, breath improvement of the was improved
Patient manifested as evidenced improve frequency and blood pressure condition of the
the following: by pallor patient's tissue
- Paleness - Check capillary refill and oxygenation.
- Body weakness conjunctiva for paleness - To determine blood
- Physical inactivity - Provide oxygen therapy circulation
- Low hgb count (0.6) - This is to get enough
- Low hematocrit - Elevate head of bed to 30 oxygen to function and
count (18.0) degrees as ordered stay well
- Low RBC (2.10) - Advise patient to have - This is to promote
enough rest circulation
- Enough rest is
- Provide and maintain oxygen needed to conserve
as ordered energy
- This aids in difficulty
of breathing
X. NURSING CARE PLAN (4)
ASSESSMENT DIAGNOSIS PLANNING INTERVENTION RATIONALE EVALUATION
Subjective: Imbalance After 8 hours - Complete a thorough - Allow the nurse to After 8 hours of
“Naniwang na akong nutrition less of nursing nutrition screening. understand where the nursing
anak kay dili kaayo than body interventions, patient’s present interventions,
siya tig kaon” as requirements patient will nutritional status is patient has
verbalized by the related to lack able to and assess needs. maintain
mother of appetite as maintain - Assess patient’s lab values. - Certain laboratory nutritional level
Objective: evidenced by nutritional values may be
Patient manifested weight and level abnormal when
the following: skin integrity patient is suffering
- Paleness from imbalanced
- Body weakness nutrition.
- Physical inactivity - Assess patient’s mobility - Patients may become
- Low hgb count status. weak and unable to
(0.6) complete their regular
- Low hematocrit activities if not taking
count (18.0) in the appropriate
- Low RBC (2.10) nutrition. Additional
- Assess reason for collaboration with
imbalanced nutrition (i.e. other disciplines may
other medical or be necessary.
environmental conditions). - Can be extensive.
Identifying the
potential cause can
further assist with
overcoming that
challenge and treating
the appropriate
underlying condition.
- Weigh patient routinely
- Weighing patients
routinely will allow the
healthcare team to
- Assess patient’s overall have objective data to
safety trend and monitor the
patient’s progress.
- Imbalanced nutrition
can decrease the
patient’s strength and
overall safety. If
- Assess oral care/hygiene patient displays signs
of weakness
- Assess the need of collaboration with
assistance devices to aid in other disciplines may
feeding. be necessary to
improve strength and
endurance.
- Good oral care can
enhance an individual’s
appetite.
- Patients with
disabilities affecting
motor function may
need specialized eating
utensils in order to
successfully eat and
feed oneself, provide
these as appropriate.
XI. RELATED READINGS
Thalassemia
Reviewed by Noman Ul Haq, Naila Masood, Aqeel Nasim, Sohail Riaz, Muhammad Saood and Riffat
Yasmin
Published on May 4, 2018
The populations of Middle East, South China, India, Pakistan, Central Asia, Thailand and
Mediterranean countries have highest prevalence. In Pakistan, approximately 8 million of population is
suffering with thalassemia. Approximately five thousand children are born with thalassemia each year and
around five out of hundred are presently suffering from it. Chronic anemia prompts a condition of consistent
iron absorption, leading to iron over intake. This iron overload leads to majority of its subsequent
inconveniences such as cardiac, hepatic, and endocrine, etc. The patients with thalassemia are observed to
have diminished intellectual perception, attention, memory, visual talents and managerial skills which are
more commonly seen in hemosiderotic individuals. The thalassemia patients depend majorly on blood
transfusions as a sole treatment alternative, apart from stem-cell transplantation which is quite expensive,
they feel themselves as a burden not only on their families but also on society.
There are no specific treatment options available for thalassemia in Pakistan and the disease is not
curable completely. Bone marrow transplantation, which is an ultimate way of treating the disease, also
depends upon the availability of specific donor and finally acceptance by the body of recipient.
Furthermore, these treatment options are very costly and people are mostly poor. Therefore, the only option
is the prevention. In addition, Pakistani people are mostly uneducated and not aware about different diseases
and their ways of prevention. The level of medical and social awareness for this debilitating disease among
parents of thalassemia is very low. Literature suggests that, no study has been conducted in Quetta regarding
its awareness. Therefore, the present study was conducted to find out the awareness in this area. This study
will highlight the need of awareness campaigns for people regarding thalassemia and its prevention. We
also evaluate awareness about thalassemia among the guardians of thalassemia patients. The results of this
study will help to determine the areas needing further improvement in public awareness campaigns.
REACTION
Thalassemia is a serious health condition that can have a significant impact on a person's life. The
only risk factor is having a family history of the disease. This means 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 your body. Ther is no
cure, but treatable. A person with thalassemia will need to receive medical care on a regular basis from a
hematologist or a doctor who specializes in treating patients with thalassemia. The most important thing a
person with thalassemia can do is stick to their transfusion and chelation schedules to prevent severe anemia
and possible organ damage from iron overload. Other healthy choices a person with thalassemia should
consider include eating nutritious foods, exercising, and developing positive relationships. A healthy
lifestyle is important for everyone. For people living with thalassemia, it is especially important to know
that a healthy lifestyle means managing the disorder as well as making healthy choices. For people living
with thalassemia, eating nutritious foods is important to maintain a healthy lifestyle a diet, high in fruits
and vegetables and low in fats is ideal for gaining the essential nutrients our bodies needs.
Many people with thalassemia can also participate in moderate physical activities including biking,
running, and walking. Exercise is part of an overall healthy lifestyle and helps lead to better health
outcomes. Although some people with thalassemia may have trouble participating in vigorous forms of
exercise. Also having warm, supportive relationships is an important part of life especially our friends, and
family members can offer support in managing thalassemia. If you have thalassemia, thalassemia trait, or
know someone in your family with thalassemia, genetic counseling is recommended prior to any pregnancy
so that you and your partner can be informed of your risk of having a child with thalassemia. But just
remember one thing, God makes everything happens for a reason. Be strong, have courage and don’t lose
hope. Laban lang! ♡♡
XII. GENERAL EVALUATION
Patient x, a 2-year-old male was admitted with a fever for 4 days as the chief complaint.
During the admission, the patient has a history of present illness of elevated body temperature.
The patient has undergone multiple blood tests such as complete blood count (CBC) which
includes measures of hemoglobin and the quantity and size of red blood cells. Laboratory tests
resulted in a final diagnosis of Thalassemia.
The patient is responsive and oriented to surroundings after the blood test when the effect
of medication was off. Patient teaching is implemented with proper hygiene. Upon discharge, the
patient was given furosemide to help treat fluid retention (edema) and was given instruction to
return to Dr. Chan Clinic after two weeks for a follow-up check-up.
XIII. REFERENCES
Ø htt://evolve.elseveir.com
Ø https://nursing.unboundmedicine.com/nursingcentral/view/Davis-Drug-
Guide/51345/all/furosemide
Ø hhtps://nurreslab.com/5-hospitalized-child-nursing-care-plans/
Ø https://nurseslabs.com/thalassemia/
Ø https://www.slideshare.net/HARINAGAR49/thalassemias-77667502
Ø https://www.researchgate.net/publication/325010781_Assessment_of_disease_state_kno
wledge_and_awareness_among_the_guardians_of_thalassemia_patients_attending_differ
ent_health_facilities_in_Quetta_Pakistan
Ø https://www.thalassemia.ca/resources/glossary-of-
terms/#:~:text=Thalassemia%3A%20Thalassemia%20refers%20to%20a,blood%20cells
%2C%20which%20are%20inherited.
Ø https://my.clevelandclinic.org/health/diseases/22349-autoimmune-hemolytic-
anemia#:~:text=Autoimmune%20hemolytic%20anemia%20(AIHA)%20is,be%20fatal%
20if%20left%20untreated.
Ø https://www.mayoclinic.org/diseases-conditions/acute-lymphocytic-leukemia/symptoms-
causes/syc-
20369077#:~:text=Acute%20lymphocytic%20leukemia%20(ALL)%20is,cells%2C%20r
ather%20than%20mature%20ones.
Ø https://medlineplus.gov/genetics/understanding/basics/gene/
Ø https://www.webmd.com/a-to-z-guides/what-is-
acanthocytosis#:~:text=Acanthocytes%20are%20also%20called%20spur,of%20acanthoc
ytes%20in%20their%20blood.