CASE REPORT

THALASSEMIA MAJOR

Presenter:

Supervisor:
dr. Rita Evalina, Sp.A(K)

PEDIATRIC DEPARTMENT
RSUP H ADAM MALIK MEDAN
INTRODUCTION
 Until recently, autoimmune encephalitis was
restricted to the syndrome described as
paraneoplastic limbic encephalitis (LE), an
infrequent paraneoplastic neurological
syndrome (PNS) mainly associated with lung
cancer
These encephalitides are not as unusual as
previously believed. In a retrospective
analysis of encephalitis of unknown origin
admitted to an intensive care unit, 1% were
finally identified as autoimmune
EPIDEMIOLOGY
 The overall incidence of the condition
is unknown
Higher incidence than viral
encephalitis
81% diagnosed in woman
Median age at 21 years
Over one-third are children
PATHOPHYSIOLOGY
Anti NMDA
receptor

Reduction of
NMDA
activity

Failure of
synapse
transmission
CLINICAL MANIFESTATION
1. Failure to thrive in early childhood
2. Anemia
3. Jaundice, gallstones
4. Hepatosplenomegaly, hypersplenism
5. Abnormal facies, prominence of malar
eminences, frontal bossing, depression of
bridge of nose, and exposure of upper central
teeth (Cooleys Face)
6. Growth retardation, delayed puberty
7. Leg ulcers
8. Skin bronzing
9
Thalassemia facies
DIAGNOSIS
DIFFERENTIAL DIAGNOSIS
MANAGEMENT
 Hypertransfusion Protocol
Chelation Therapy
Splenectomy
Supportive care
Hematopoietic Stem Cell
Transplantation
Gene Therapy
COMPLICATIONS
PROGNOSTIC FACTOR
 The prognosis depends on the type
and severity of thalassemia. As stated
above, the clinical course of
thalassemia varies greatly from mild or
even asymptomatic to severe and life
threatening.
CASE REPORT
 Name : R
Age : 4 years 3 months 9 days
Sex : Male
Date of Admission : October, 3rd 2014

Chief Complaint : Pallor

History :
Pale was experienced since one months ago before admitted
to HAM general Hospital.
History of nausea, vomitting, icteric was not found.
Defecation and urination were positive and normal.
This patient was diagnosed with Thalassemia major from
the result of Hb electrophoresis that was done when the
patient was 1 years old
History of any family members having the same type of
problem or having thalassemia was negative.
The patient was the former patient of Non-Infection Unit/
Hemato-oncology Unit HAM general hospital and given PRC
transfussion regularly
PREGNANT HISTORY
There is no history of fever, hypertension, diabetic
mellitus, and consumed herbal medicine.

BIRTH HISTORY:
Spontaneous, normoterm ( 38 weeks), attended by
midwives, BW 3000 gram, BL 50 cm, cyanotic (-)

IMMUNIZATION HISTORY
Hepatitis B, BCG, DPT, polio and measles
vaccination were complete.
FEEDING HISTORY
From birth to 2 months
From 2 months to 4 months
From 4 months to 6 months
rice
From 6 months to 1 year 3 months
From 1 year 3 m months until
: Breast milk only
: Formula milk only
: Formula milk and
porridge
: Rice porridge only
: Family menu
 HISTORY OF GROWTH AND
DEVELOPMENT
Sitting : 4 months
Crawling : 7 months
Standing: 12 months
Walking : 12 months

History of previous illness : -thalassemia major

History of previous medications : PRC transfussion

HISTORY OF FAMILY DISEASE

No similar cases were known in the family
 PHYSICAL EXAMINATION
Generalized status:

Body weight: 12,0 kg, Body Height: 90 cm

Weight for age: -3 < z scores < -2
Height for age /age: -2 < z scores < 0
Weight for Height : -1 < z scores < 0

Based on CDC Growth Standards:

Weight for age: 84,6% (normal)
Height for age: 93,7% (normal)
Weight for height: 81,4% (normal)
 PRESENS STATUS
Consciousness: Alert, Body temperature: 36,8 oC,
RR:25 tpm, HR: 80 bpm, BP: 110/70 mmHg,
Anemic (+); Icteric (-); Cyanosis (-); Edema (-); Dyspnea (-).

Localized status :
Head :
Eye: Conjunctiva palpebra inferior pale (+)
Right Eye : Pupil diameter 3 mm. Conjunctiva palpebra inferior pale (+). Icteric
sclera (-).Light reflex (+).
Left Eye : Pupil diameter 3 mm. Conjunctiva palpebra inferior pale (+).
Icteric sclera (-).Light reflex (+).
Face: within normal limit
Ear: within normal limit
Nose: within normal limit
Mouth: within normal limit
 Neck :
Lymph node enlargement (-)
Thorax:
Symmetrical fusiformis, epigastrial chest retraction, HR: 80
bpm, regular, murmur (-). RR: 25x/i, regular,
rales (-)
Abdomen:
Soepel, normal peristaltic, liver was palpable 4 cm below
right costal arc , spleen was palpable schauffner : II
Extremities:
Pulse 80 bpm, regular, adequate pressure and volume,
warm, CRT < 3,
Urogenital:
Male, within normal limit.
Complete Blood Count (3rd October 2014)
Complete Blood Count
Hemoglobin 4,10 gr% 11,3 14,1 gr%
Hematocrite 12,2 % 37 41%
Erithrocyte 1,60 x 106 /mm3 4,40 4,48 x 106 /mm3
Leucocyte 5,54 x 103 /mm3 4,5 13,5 x 103 /mm3
Platelet 167.000 /mm3 217.000 497.000 /mm3
MCV 76,30 fl 81 95 fl
MCH 25,60 pg 25 29 pg
MCHC 33,6 gr% 29 31 gr%
RDW 19.60 % 11.6 14.8 %
Difftel
Neutrofil 42,80 37-80
Limfosit 44,80 20-40
Monosit 9,0 2-8
Eosinofil 2,70 1-6
Basofil 0,70 0-1
Neutrofil absolute 2,37 1,9-5,4
Limfosit absolute 2,48 3,7-10,7
Monositabsolute 0,50 0,3-0,8
Eosinofil absolute 0,15 0,2-0,5
Basofil absolute 0,04 0-0,1
Hemostatic Function
Test
Ferritin 1833,00 ng/mL Adult: 15 300
Child: 15 240
Iron (Fe) 118 mg/dL 61 - 157
TIBC 131 g/dL 112 346
Renal Function Test
Ureum 11.2 mg/dL < 50
Creatinine 0.22 mg/dL 0,31 0,42
Uric Acid 5,2 mg/dL < 7,0
Liver Function Test
Total Bilirubin 1,41 mg/dL <1
Direct Bilirubin 0,42 mg/dL 0 0,2
Alkaline Phospatase 87 U/L < 269
(ALP)
AST/SGOT 19 U/L < 38
ALT/SGPT 11 U/L < 41
Uric Acid 5,2 mg/dL < 7,0
 Radiologic Imaging October 3rd 2014

Chest x-ray interpretation:

KV strong. Normal inspiration, middle trachea, left and right costophrenicus
angel is sharp, there is no infiltrat,smooth diaphragm,
Cardio Thoracic Ratio is more than 50%, bones and soft tissues in good condition
Conclusion : Cardiomegaly
Differential Diagnosis :
-thalassemia major
Trait thalassemia
-thalassemia
Iron deficiency anemia
Chronic disease anemia
Sideroblastic anemia

Working Diagnosis:
-thalassemia major

Management:
Bed rest
Folic Acid 1 x 1 mg
Vitamine C 1 x 1 tab
Vitamine E 1 x 1 cap
Diet MB 1100 kcal with 24 grams protein
PRC Transfusion as needed
Transfussion requirement: Hb x 4 BW: (12 4,1) x 12 x 4 = 455,04 450
cc
Transfussion ability : 3 cc/kgBW: 3 x12 : 36 cc 50 cc
Diagnostic Planning:
Echocardiography
 Follow Up 3rd July 2014

S Pale (+)

O Sens: Alert, Temp: 36,8oC. Anemic (+). Icteric (-).

Edema (-). Cyanosis (-) Dyspnoe (-)
Body weight: 12 kg, Body length: 90 cm.

Head No deformities
Right Eye : Pupil diameter 3 mm. Conjunctiva
palpebrainferior pale (+).
Icteric sclera (-). Light reflex (+).
Left Eye : Pupil diameter 3 mm. Conjunctiva
palpebrainferior pale (+).
Icteric sclera (-). Light reflex (+).

Neck Trachea midline. JVP (R -2 cmH20). Lymph node

enlargement (-).
Thorax Symmetrical fusiform and Chest retraction (-)
HR :80 bpm, regular, murmur (-)
RR :25 tpm, regular, rales (-)

Abdomen - Rapid turgor, soepel, peristaltic was normal.

- Liver, palpable 4 cm below costal arc
- Spleen, palpable Schuffner II

Extremities Pulse 80 bpm, regular, adequate pressure and volume

Genital Male; within normal limit.

A -thalassemia major

P Management:
Bed rest
Folic Acid 1 x 1 mg
Vitamine C 1 x 1
Vitamine E 1 x 100 IU
Diet MB 1100 kcal with 24 grams protein
PRC Transfusion as needed (day 1)
Transfussion requirement: Hb x 4 BW: (12 4,1) x
12 x 4 = 455 cc 450 cc
Transfussion ability : 3 cc/kgBW: 3 x12 : 36 cc
50 cc

Diagnostic Planning:
- Echocardiography
 Follow Up 4th July 2014

S Pale (+)

O Sens: Alert, Temp: 37oC. Anemic (+). Icteric (-). Edema

(-). Cyanosis (-) Dyspnoe (-)
Body weight: 12 kg, Body length: 90 cm.

Head No deformities
Right Eye : Pupil diameter 3 mm. Conjunctiva
palpebrainferior pale (+).
Icteric sclera (-). Light reflex (+).
Left Eye : Pupil diameter 3 mm. Conjunctiva
palpebrainferior pale (+).
Icteric sclera (-). Light reflex (+).

Neck Trachea midline. JVP (R -2 cmH20). Lymph node

enlargement (-).
Thorax Symmetrical fusiform and Chest retraction (-)
HR :80 bpm, regular, murmur (-)
RR :25 tpm, regular, rales (-)

Abdomen - Rapid turgor, soepel, peristaltic was normal.

- Liver, palpable 4 cm below costal arc
- Spleen, palpable Schuffner II

Extremities Pulse 80 bpm, regular, adequate pressure and volume

Genital Male; within normal limit.

A -thalassemia major

P Management:
Bed rest
Folic Acid 1 x 1 mg
Vitamine C 1 x 1
Vitamine E 1 x 100 IU
Diet MB 1100 kcal with 24 grams protein
PRC Transfusion as needed (day 2)
175 cc ( has been done 50 cc from 450 cc needed)
Exjade 1 x 1 tab

Diagnostic Planning:
- Echocardiography
- Consul Pediatric Cardiologist, ophtalmologist, ENT,
pusyansus
 Follow Up 5th July 2014

S Pale (+)

O Sens: Alert, Temp: 37oC. Anemic (+). Icteric (-). Edema

(-). Cyanosis (-) Dyspnoe (-)
Body weight: 12 kg, Body length: 90 cm.

Head No deformities
Right Eye : Pupil diameter 3 mm. Conjunctiva
palpebrainferior pale (+).
Icteric sclera (-). Light reflex (+).
Left Eye : Pupil diameter 3 mm. Conjunctiva
palpebrainferior pale (+).
Icteric sclera (-). Light reflex (+).

Neck Trachea midline. JVP (R -2 cmH20). Lymph node

enlargement (-).
Thorax Symmetrical fusiform and Chest retraction (-)
HR :80 bpm, regular, murmur (-)
RR :25 tpm, regular, rales (-)

Abdomen - Rapid turgor, soepel, peristaltic was normal.

- Liver, palpable 4 cm below costal arc
- Spleen, palpable Schuffner II

Extremities Pulse 80 bpm, regular, adequate pressure and volume

Genital Male; within normal limit.

A -thalassemia major

P Management:
Bed rest
Folic Acid 1 x 1 mg
Vitamine C 1 x 1
Vitamine E 1 x 100 IU
Diet MB 1100 kcal with 24 grams protein
PRC Transfusion as needed (day 3) 150 cc ( has been
done 225 cc from 450 cc needed)
Desferal 600 mg/24 h/ iv

Consult Ophtalmologist result:

There were no Ophtalmic disorders found

Consult Othonologist result:
There were no ear disorders found
 Follow Up 6th July 2014

S Pale (+)

O Sens: Alert, Temp: 37oC. Anemic (+). Icteric (-). Edema

(-). Cyanosis (-) Dyspnoe (-)
Body weight: 12 kg, Body length: 90 cm.

Head No deformities
Right Eye : Pupil diameter 3 mm. Conjunctiva
palpebrainferior pale (+).
Icteric sclera (-). Light reflex (+).
Left Eye : Pupil diameter 3 mm. Conjunctiva
palpebrainferior pale (+).
Icteric sclera (-). Light reflex (+).

Neck Trachea midline. JVP (R -2 cmH20). Lymph node

enlargement (-).
Thorax Symmetrical fusiform and Chest retraction (-)
HR :80 bpm, regular, murmur (-)
RR :25 tpm, regular, rales (-)

Abdomen - Rapid turgor, soepel, peristaltic was normal.

- Liver, palpable 4 cm below costal arc
- Spleen, palpable Schuffner II

Extremities Pulse 80 bpm, regular, adequate pressure and volume

Genital Male; within normal limit.

A -thalassemia major

P Management:
Bed rest
Folic Acid 1 x 1 mg
Vitamine C 1 x 1
Vitamine E 1 x 100 IU
Diet MB 1100 kcal with 24 grams protein
PRC Transfusion as needed (last day) 75 cc ( has
been done 375 cc from 450 cc needed)
Exjade 1x1 tab

Laboratorium result :
Imunodeficiency profile :
Anti HIV ( 3 Methods)
Anti HIV (rapid I) : non reaktif
Anti HIV (rapid II) : non reaktif
Anti HIV (rapid III) : non reaktif
 Follow Up 7th July 2014

S Pale (-)

O Sens: Alert, Temp: 37oC. Anemic (+). Icteric (-). Edema

(-). Cyanosis (-) Dyspnoe (-)
Body weight: 12 kg, Body length: 90 cm.

Head No deformities
Right Eye : Pupil diameter 3 mm. Conjunctiva
palpebrainferior pale (+).
Icteric sclera (-). Light reflex (+).
Left Eye : Pupil diameter 3 mm. Conjunctiva
palpebrainferior pale (+).
Icteric sclera (-). Light reflex (+).

Neck Trachea midline. JVP (R -2 cmH20). Lymph node

enlargement (-).
Thorax Symmetrical fusiform and Chest retraction (-)
HR :80 bpm, regular, murmur (-)
RR :25 tpm, regular, rales (-)

Abdomen - Rapid turgor, soepel, peristaltic was normal.

- Liver, palpable 4 cm below costal arc
- Spleen, palpable Schuffner II

Extremities Pulse 80 bpm, regular, adequate pressure and volume

Genital Male; within normal limit.

A -thalassemia major

P Management:
Bed rest
Folic Acid 1 x 1 mg
Vitamine C 1 x 1
Vitamine E 1 x 100 IU
Diet MB 1100 kcal with 24 grams protein
Desferal 600 mg / 24 h / iv

Echocardiography result:
Left sided erlagement
Minimal PE
Good function

Laboratorium result :
CBC :
Hb : 13,10 g%
Ht : 34,9 %
Ery : 4,34 x 106/mm3
Leu : 4850/mm3
Trom : 444.000/mm3
MCV/MCH/MCHC/RDW: 80,4/30,2/37,5/17,5
E/B/N/L/M : 1/0,6/59,9/317,4/5
 Follow Up 8th July 2014

S Pale (-)

O Sens: Alert, Temp: 37oC. Anemic (+). Icteric (-). Edema

(-). Cyanosis (-) Dyspnoe (-)
Body weight: 12 kg, Body length: 90 cm.

Head No deformities
Right Eye : Pupil diameter 3 mm. Conjunctiva
palpebrainferior pale (+).
Icteric sclera (-). Light reflex (+).
Left Eye : Pupil diameter 3 mm. Conjunctiva
palpebrainferior pale (+).
Icteric sclera (-). Light reflex (+).

Neck Trachea midline. JVP (R -2 cmH20). Lymph node

enlargement (-).
Thorax Symmetrical fusiform and Chest retraction (-)
HR :80 bpm, regular, murmur (-)
RR :25 tpm, regular, rales (-)

Abdomen - Rapid turgor, soepel, peristaltic was normal.

- Liver, palpable 4 cm below costal arc
- Spleen, palpable Schuffner II

Extremities Pulse 80 bpm, regular, adequate pressure and volume

Genital Male; within normal limit.

A -thalassemia major

P Management:
Bed rest
Folic Acid 1 x 1 mg
Vitamine C 1 x 1
Vitamine E 1 x 100 IU
Diet MB 1100 kcal with 24 grams protein
Exjade 1x1 tab (30 days)

Planning:
Control to Pediatric Hemato-oncology unit
HAM General Hospital
DISCUSSION AND
SUMMARY
 SUMMARY
It has been reported a case of a boy, 4 years old with
Thalassemia Major. The diagnosis was established based on
anamnesis, clinical sign, symptoms, and physical examination.
The prognostic of this patient was not good due to continuous
transfusion. This patient should remain controlled as an
outpatient to prevent complication of continuous transfussion.
This patient also need chelation to reduce the accumulation of
iron, along with other nutrient (calcium, vitamin D, folic acid,
trace mineral (copper, zinc, and selenium) and antioxidant
vitamins (E and C).
Thankyou
!