Case Report

THALASSEMIA
Preceptor:
dr. Ulynar Marpaung, Sp.A
Presenter:
Andhika Hadi Wirawan 1102010020
Pediatric Department

Patients identity

Name
Birth Date
Age
Gender
Address

: ADP
: 13 April 2008
: 7 years 0 months
: Female
: Asrama Brimob Pamulang RT01/12
Ciputat
Nationality
: Indonesia
Religion
: Islam
Date of admission
: April 16th 2015
Date of examination : April 16th 2015
#

Parents Identity

Father

Mother

Name

Mr. A H

Mrs. N H

Age

35 years old

32 years old

Job

Police

Housewife

Nationality

Javanese

Javanese

Religion

Islam

Islam

Education

Police Academy

High School
(graduated)

Earning/month Approximately

Rp.4.500.000,Address

Asrama Bimob Pamulang RT01/12 Ciputat

#

Anamnesis
The anamnesis was taken on April 16th 2015,
by autoanamnesis and alloanamnesis (from
patients mother).
Chiefcomplain:Pallorthatworsensince4
daysbeforeadmitted
Additionalcomplains: Easily tired, fatigue,
abdominal pain. enlarged abdomen
#

History of Present Illness

Patient was admitted to RS Sukanto hospital with pallor that
worsen since 4 days before admitted. Skin pallor was first noticed
on age 8 months, but pallor got worsen since 4 days ago. Skin
pallor was found all over patients body, especially on lips, lining of
eyes, inner mouth, nails and palms. Pallor was usually worsen if
patient was heavily exercised and releaved after having blood
tranfusion.
Patient also complaining that she was easily tired and malaise.
This symptoms first noted when she was starting breastfeeding,
her mother said that the patient was easily fatigued. On her
childhood, the patient also easily fatigued to do daily activities, for
example when play with friends.
#

Patients also presented with abdominal pain, located

in her left upper quadrant. Pain characteristic was
sharp, not radiating, felt continously without any
episodic pain-free break, and without any aggravating or
relieving factors. Patient also complained about
enlarged abdomen, that progressively enlarged since
age 8 months. No fever, nausea, or vomiting are noted.
History of cough, runny nose, or difficulty breathing is
denied. There was no disturbance on urination or
defecation. History of loss cosciousness also denied.
#

When the patient was 8 months old, patients mother

found a mass on her left upper quadrant abdomen. The
mass was smooth and hard with the same color with
surrounding tissues, immobile, with a size of big mans
fist.Patient was also easily tired to suck breast and
looked pale. No history of spontaneus bleeding, no
blood in her diapers, also no black stools. Patient was
admitted to RS Sukanto and being tested for blood test
and Hb analysis, and finally diagnosed as thalassemia
beta major. Since then, patient wa routinely transfused
every 4-8 weeks.
#

Patient usually admitted for transfusion when the patient was

pale or unable to do daily activities. Patient had her first transfusion
when she was eight months old. Interval between transfusion was
around 4-8 weeks. Following transfusion, patient never had any
fever or any allergic reaction. Last blood transfusion was 26 March
2015.
Patient never had any spontaneous bleeding including nose
bleeds and gum bleeding. History of having black stools and
bloody vomiting or diarrhea was also denied. Patient never had
history of trauma and surgery. Patient had noemal apetite without
any intake problem. History of fracture is denied.
Patient was currently counsuming ferriprox 3x500 mg.
#

History of Past Illness

Pharyngitis/Tonsilitis

Bronchitis

Pneumonia

Morbilli

Varicella

Diphteria

Enteritis

Diarrhea

Thypoid

Surgery

BrainConcussion

Fracture

DrugReaction

Birth History
MothersPregnancyHistory
Antenatal Care: Mother checkups her
pregnancy to mudwife monthly
Pregnancy Illness : No history of
problems and diseases during
pregnancy
Drug Consumed : Mother get vitamins
every antenatal care
#

ChildsBirthHistory
Labor
: Hospital
Birth attendants : Obstetrician
Mode of delivery : Sectio caesaria
Gestation
: 38 weeks
Infant state
: healthy
Birth weight : 3600 grams
Body length : 50 cm
According to the mother, the baby started to cry and the
baby's skin is red, no congenital defects were reported
#

Development History
First dentition: 6 months
Psychomotor development
Head Up
: 1 month old
Smile
: 1 month old
Laughing
: 1- 2 month old
Slant
: 2,5 months old
Speech Initation
: 5 months old
Prone Position
: 5 months old
Food Self
: 5 6 months old
Sitting
: 6 months old
Crawling
: 8 months old
Standing
: 1 years old
Walking
: 1 years old

 Mental Status: Normal

Conclusion: Growth and development
status is still in the normal limits and
was appropriate according to the
patients age

History of Eating
Breast Milk : Exclusively 6 months
Formula milk : Bebelac since 7 months
until 2 years old
Baby biscuits : Biscuits regal
Fruit and vegetables : Grape, Longan
Solid foods and side dishes : White rice,
Egg, Chicken
#

Immunization History
Immunization

Frequency

Time

BCG

1 time

1 month old

HepatitisB

3 times

0, 1, 6 months old

DPT

3 times

2, 4, 6 months old

Polio

4 times

0, 2, 4, 6 months old

Hib

4 times

2, 4, 6, 15 months old

MMR

1 times

15 months

Tifoid

1 times

24 months

HepatitisA

Family History
AgeDied
Childbirth

Gender

gestationaterm

Died
-

Spontan
pervaginam,

Age

Girl

Sumption
-

11years
old

Family Ilness History

Father
: Thalassemia carrier
Mother
: Thalassemia carrier
Older Sister : Thalassemia beta major
#

History of Disease in Other Family

Member
There is no one living around their home known for having
the same condition as the patient.

Social and Economic History

The patient lived at the dormitory together with her father.

Mother and sister.
There are 2 rooms, 1 toilet. There are 2 windows inside
the dormitory. The windows are ocassionaly opened during
the day.
Hygiene:
The patient changes her clothes everyday with clean
clothes.
#
Bed sheets changed every two weeks.

Physical Examination
16 April 2015
GeneralStatus
General condition : mild ill
Awareness
: Compos Mentis
Blood Pressure : 100/70 mmHg
Pulse
: 105 x/min, regular, full,
strong.
Breathing rate : 26x/min
Temperature : 36,5 oC (per axilla)

AntropometryStatus
Head circumstance : 48,5 cm
Weight
: 18 kilogram
Height
: 104 cm
NutritionalStatusbasedNCHS(NationalCenterforHealth
Statistics)year2000:
WFA (Weight for Age): 18/23 x 100 % = 78%
HFA (Height for Age):104/121x 100 % = 85 %
WFH (Weight for Height): 18/16x 100 % = 113 %
Conclusion: The patient has good nutritional status.

Head to Toe Examination

Head
Normocephaly, hair (black, normal distributon, not easily
removed ) sign of trauma (-), large fontanelle closed.
Eyes
Icteric sclera -/-, pale conjunctiva -/-, hyperaemia conjunctiva
-/- , lacrimation -/-, sunken eyes -/-, pupils 3mm/3mm isokor,
Direct and indirect light response ++/++
Ears
Normal shape, no wound, no bleeding ,secretion or serumen
Nose
Normal shape, midline septum, secretion -/-

Mouth
Lips: moist
Teeth: no caries
Mucous: moist
Tongue: Clean
Tonsils: T1/T1, No hyperemia
Pharynx: No hyperemia
Neck
Lymph node enlargement (-), scrofuloderma (-)

 Thorax
:
Inspection : symmetric when breathing,no retraction,
ictus cordis is not visible
Palpation : mass (-), tactile fremitus +/+
Percussion : sonor on both lung field and
Auscultation
:
Cor : regular S1-S2, murmur (-), gallop (-)
Pulmo : vesicular +/+, Wheezing -/- , Rhonchy -/-

 Abdomen :
Inspection : Convex, epigastric retraction (-), there is no a
widening of the veins, no spider nevi.
Palpation :
Tenderness (++) on left upper quadrant
Hepar : Hepatomegaly, palpable three fingers (4 cm) below arcus
costae, smooth and regular, with blunt edges, no nodule and
tenderness
Lien : Splenomegaly, palpable Schuffner 7
Percussion : Mostly dull on entire abdomen
Auscultation
: normal bowel sound, 7 times per minutes
#

Vertebra : There does not appear scoliosis,

kyphosis, and lordosis, do not look any mass along
the line of the vertebral
Ekstremities: warm akral, capillary refill time < 2
seconds, edema(-)
Skin : Pale, no cyanosis, normal turgor
Genitalia : Normal

NeurologicalExamination
Meningealsign
Nuchalrigidity

Kernig sign

Lasegue sign

Brudzinski 1

Brudinski 2

MotoricExamination
Power

Hand

5555/5555

Feet

5555/5555

Tonus
Hand

Normotonus / Normotonus

Feet

Normotonus / Normotonus

Trophy
Hand

Normotrophy / Normotrophy

Feet

Normotrophy / Normotrophy

Motoricexamination
PhysiologicReflex

Upperextrimities

Biceps

+/+

Triceps

+/+

Lowerextrimities

Patella

+/+

Achilles

+/+

PathologicReflex

Upperextrimities

Hoffman

-/-

Trommer

-/-

Lowerextrimities

Babinsky

-/-

Chaddock

-/-

Oppenheim

-/-

Gordon

-/-

Schaeffer

-/-

Clonus

Patella

-/-

Achilles

-/-

AutonomExamination

Defecation

Normal ( 4 times

Urination

daily,watery)

Sweating

Normal ( 4-5 times

daily)
Normal
#

Laboratory Investigation
Hematology (16 April 2015)

Hematology (18 April 2015)

WORKINGDIAGNOSIS
thalassemia Beta Major
Normal Growth Status
Good Nutritional Status
Complete Immunization Status
MANAGEMENT
Ferriprox 3x500 mg
PRC Transfusion 300 cc
Lasik 1x15 mg (after tranfusion)
IVFD NaCL 0,9 % 500cc macro drip, 14 dpm
#

PROGNOSIS
Quo ad vitam
: ad bonam
Quo ad functionam : dubia ad bonam
Quo ad sanactionam : dubia ad bonam

FOLLOWUP
th
th
(April16 -April18 2015
April16th2015.Firstdayofhospitalization

Pallor(+)
Fatigue(+)
Abdominalpain(+)
Fever(-)
Shortnessofbreath(-)

Generalcondition:mildill
Awareness:ComposMentis
BloodPressure:100/70mmHg
Pulse

:105x/min,regular,full,strong.

Breathingrate :26x/min
Temperature :36,5oC(peraxilla)
Eye:paleconjunctiva+/+
Thorax:
Cardio:S1/S2,reguler,nomurmur,nogallop
Pulmonary:vesiculer+/+,rhonchi-/-,wheezing-/-

Abdomen:
Inspection : Convex, epigastric retraction (-), there is no
awideningoftheveins,nospidernevi.
Palpation :Tenderness(++)onleftupperquadrant
Hepar : Hepatomegaly, palpable three fingers (4 cm)
below arcus costae, smooth and regular, with blunt
edges,nonoduleandtenderness
Lien:Splenomegaly,palpableSchuffner7
Percussion

:Mostlydullonentireabdomen

Auscultation

: normal bowel sound, 7 times per

minutes

Hematology

Results

NormalValue

Haemoglobin

7,5 g/dL

12-14 g/dL

Leukocytes

3.000/L

5,000 10,000/L

Hematocrits

22 %

37 43 %

Trombocytes

72.000/ L

150,000 400,000/L

Erythrocytes

3,10 million/L

4 5 million/L

4 cm
S7

thalassemiabetamajor
IVFD NaCL 0,9 % 500cc macro drip, 14 dpm

PRC 150 ml (start 3.30 pm)

Ferriprox 3x500 mg

FOLLOWUP
th
th
(April16 -April18 2015
April17th2015.Seconddayofhospitalization

Pallor(+)
Fatigue(+)
Abdominalpain(+)
Fever(-)
Shortnessofbreath(-)

Generalcondition:mildill
Awareness:ComposMentis
BloodPressure:100/70mmHg
Pulse

:105x/min,regular,full,strong.

Breathingrate:25x/min
Temperature :36,7oC(peraxilla)
Eye:paleconjunctiva+/+
Thorax:
Cardio:S1/S2,reguler,nomurmur,nogallop
Pulmonary:vesiculer+/+,rhonchi-/-,wheezing-/-

Abdomen:
Inspection : Convex, epigastric retraction (-), there is no
awideningoftheveins,nospidernevi.
Palpation :Tenderness(++)onleftupperquadrant
Hepar : Hepatomegaly, palpable three fingers (4 cm)
below arcus costae, smooth and regular, with blunt
edges,nonoduleandtenderness
Lien:Splenomegaly,palpableSchuffner7
Percussion

:Mostlydullonentireabdomen

Auscultation

: normal bowel sound, 7 times per

minutes

thalassemiabetamajor
IVFD NaCL 0,9 % 500cc macro drip,
14 dpm
PRC 100 ml (start 2.30 pm)
Inj. lasix 1x15 mg
Ferriprox 3x500 mg
Check H2TL

FOLLOWUP
th
th
(April16 -April18 2015
April18th2015.Thirddayofhospitalization

Pallor(-)
Fatigue(+)
Abdominalpain(+)
Fever(-)
Shortnessofbreath(-)

Generalcondition:mildill
Awareness:ComposMentis
BloodPressure:100/70mmHg
Pulse

:104x/min,regular,full,strong.

Breathingrate:24x/min
Temperature :36,5oC(peraxilla)
Eye:paleconjunctiva-/Thorax:
Cardio:S1/S2,reguler,nomurmur,nogallop
Pulmonary:vesiculer+/+,rhonchi-/-,wheezing-/-

Abdomen:
Inspection : Convex, epigastric retraction (-), there is no
awideningoftheveins,nospidernevi.
Palpation :Tenderness(++)onleftupperquadrant
Hepar : Hepatomegaly, palpable three fingers (4 cm)
below arcus costae, smooth and regular, with blunt
edges,nonoduleandtenderness
Lien:Splenomegaly,palpableSchuffner7
Percussion

:Mostlydullonentireabdomen

Auscultation

: normal bowel sound, 7 times per

minutes

Hematology

Results

NormalValue

Haemoglobin

11,9 g/dL

12-14 g/dL

Leukocytes

3.700/L

5,000 10,000/L

Hematocrits

36 %

37 43 %

Trombocytes

160.000/ L

150,000 400,000/L

thalassemiabetamajor

IVFD NaCL 0,9 % 500cc macro drip, 14 dpm

Ferriprox 3x500 mg
Go Home

Definition
Thalassemia is a
hereditary disorder inherited as an
autosomal recessive that cause a
reduction or absence of synthesis
of one or more globin chains.

Epidemiology
in Southeast Asia 3-9%.
Almost found in Indonesia 50%
beta thalassemia major
carriers in Indonesia found 3-10%

Etiology
Mutation of globin chain
Herediter

Classification
Genetic
alpha thalassemia and betha
thalassemia
Clinically
1. Thalassemia major
2. Thalassemia minor
3. Intermediate

Diagnosis

Pale
Mongoloid face (facies Cooley)
Can be found jaundice
Disturbance of growth
Splenomegaly and hepatomegaly

Facies Cooley

Peripheralblood:
Low of Hb
Microcytic hypochromic, target
cells, anisositosis, mikrosferosit, polikromasi, poikilositosis and targe
t cells.
reticulocytes increased.
SpecialInspection:
Hb F increased: 20% -90% of total Hb
Hb Electrophoresis: Hb F, Hb A2
GeneticConseling:
Pedigree assesment

Treatment

Blood transfusion
iron chelating agent
Splenectomy
Hematopoetic Stem Cell
Transplantation

Thank you

Pertanyaan
Bagaimana cara membedakan
thalasemia dan leukemia berdasarkan
gejala klinis awal?
Apakah indikasi dilakukannya
splenectomy pada pasien thalasemia?
Kapankah kita memberikan transfusi
darah pada pasien thalasemia?
#

 Mengapa pada pasien ini diberikan

ferriprox?
Efek samping penimbunan zat besi
pada pasien ini?
Mengapa pada pasien thalasemia
terdapat pembesaran tulang
mandibula?
Prognosis dari pasien thalasemia?
#

 Apa indikasi dilakukannya sumsum

tulang pada pasien thalasemia?
Pencegahan terjadinya generasi baru
thalasemia?