HEMOPHILIA A

COMPILED BY :
Silvia Yanita Karina
Timotius Kevin Natanael

11010260
11010296

SUPERVISIORED BY :
dr. Tiangsa Sembiring, M.Ked(Ped), Sp.A(K)

Normal Hemostasis
II

X
TF VIIa

Xa

Va

IIa

VIII/vWF
VIII
/vWF
VIIIa

TF--Bearing Cell
TF
TF VIIa
IXa

IX
X

Va
Platelet

II

Xa
Va
IXa VIIIa
Activated Platelet
VIIa
Va
IXa VIIIa
Xa
IX
X

II

IIa
IIa

What is Hemophilia?
Hemophilia is an inherited bleeding
disorder in which there is a deficiency or
lack of factor VIII (hemophilia A) or
factor IX (hemophilia B)

Why it
happens

Hemophilia A
It is caused by the
lack of activity of
the plasma protein
factor VIII which
affects the clotting
property of blood.

Symptoms of Hemophilia A
Bruising

Prolonged
bleeding

Spontaneous bleeding

Blood in the
urine or stool

Bleeding into joints

with pain and swelling

Gastrointestinal tract
and urinary tract
hemorrhage

Hemophilia A and B are classified as mild, moderate, or

severe, depending on the amount of clotting factor VIII or
IX in the blood

Screening Test
Complete Blood Count (CBC)
Activated Partial Thromboplastin Time
(APTT) Test
Prothrombin Time (PT) Test
Fibrinogen Test
Clotting Factor Tests : factor VIII

Case Report
MVN, a 6 year 3 months old boy, with 19
kg of body weight and 115 cm of body
length, came to pediatric departement of
non infection unit in Haji Adam Malik
General Hospital Medan on 4 June 2015
with chief complaint of left knee swelling.

History of disease :
Left knee swelling had been suffered by the
patient for the recent three days. Swelling in
the left ankle is not found. History of gum
bleeding was not found. History of fever was
not found. History of nausea was not found.
History of trauma was not found.
Urination : positive, normal.
Defecation : positive, normal.

Antropometry :

BW/BL: 19/20,5 x 100% = 92,6 %

BW/age: 19/21 x 100% = 90,4 %
BL/age : 115/116,5 x 100% = 98,7 %

Feeding History
From birth to 6 months : Breast milk only
From 6 months to 9 months : Breast milk with
rice porridge
From 9 months to 1,5 years : Breast milk with
soft rice
From 1,5 years until now : Family food

History of Growth and Development

BW of born
BL of born
Sitting
Crawling
Standing
Walking

: 3000 gram
: 50 cm
: 7 months
: 9 months
: 12 months
: 14 months

Physical Examination
Generalized status :

Body weight: 19 kg, Body length: 115 cm,

Body weight in 50th percentile according to age: 21 kg
Body length in 50th percentile according to age: 116,5
cm
Body weight in 50th percentile according to body
length: 20,5 kg
BW/BL: 19/20,5 x 100% = 92,6 %
BW/age: 19/21 x 100% = 90,4 %
BL/age : 115/116,5 x 100% = 98,7 %

Present status
Consciousness : GCS 15 (E4 V5 M6)
Blood Pressure: 100/70 mmHg
Heart Rate
: 100 x/i
Respiratory Rate: 22 x/i
Body Temperature: 37,2C.
Anemic (-). Icteric (-). Cyanosis (-). Edema (-).
Dyspnea (-).

Localized status
Head : Light reflex (+/+), isochoric.Pale inferior palpebral conjunctiva (/-). Icteric sclera (-/-). Ear, nose, and mouth were within normal limit.
Neck : Lymph node enlargement was not found.
Thorax: Symmetrical fusiform. Chest retraction was not found. HR: 100
x/i, regular, murmur was not found. RR: 22 x/i, regular, ronchi was not
found. Breath sound: vesicular. Additional sound was not found.
Abdomen: Soepel. Liver unpalpable, spleen unpalpable. Peristaltic (+)
normal.
Extremities: Pulse 100x/i, regular, adequate pressure and volume, warm,
CRT <3. Hemarthrosis was found at left knee.

Differential Diagnosis:
Hemophilia A
Hemophilia B
von Willebrand disease
Working Diagnosis:
Hemophilia A

Management:

Injection Koate 500 IU/12 hours for 3 days

Diet with normal food 1450 kkal with 38 g

protein

June,, 5th 2015

June
S

Left knee pain, chest hematoma

Cons: CM, Temp: 36,9C. BW: 19 kg

Head : Light reflex (+/+), isochoric. Pale inferior palpebral conjunctiva (-/-). Ear,
nose, and mouth was in normal limit.
Thorax: Symmetrical fusiform. Chest retraction was not found. HR: 94 x/i, regular,
murmur was not found. RR: 22 x/i, reguler, ronchi was not found.Breath sound:
vesicular. Additional sound was not found.
Abdomen: Soepel, liver unpalpable, spleen unpalpable. Peristaltic (+) normal.
Extremities: Pulse 94 x/i, regular, adequate pressure and volume, warm, CRT < 3.
Left knee pain was found.

Hemophilia A + arthropathy genu (S)

Management:
-

Injection Koate 500 IU/12 jam/IV (D2)

June,, 6th 2015

June
S

Left knee pain

Cons: CM, Temp: 37C. BW: 19 kg

Head : Light reflex (+/+), isochoric. Pale inferior palpebral conjunctiva (-/-). Ear,
nose, and mouth was in normal limit.
Thorax: Symmetrical fusiform. Chest retraction was not found. HR: 98 x/i, regular,
murmur was not found. RR: 22 x/i, reguler, ronchi was not found.Breath sound:
vesicular. Additional sound was not found.
Abdomen: Soepel, liver unpalpable, spleen unpalpable. Peristaltic (+) normal.
Extremities: Pulse 98 x/i, regular, adequate pressure and volume, warm, CRT < 3.
Hematoma was found in the left knee.

Hemophilia A

Management:
-

Injection Koate 500 IU/12 jam/IV (D3)

Diet with normal food 1450 kkal with 38 g protein

June,, 7th 2015

June
S

Left knee pain was not found.

Cons: CM, Temp: 37,2C. BW: 19 kg

Head : Light reflex (+/+), isochoric. Pale inferior palpebral conjunctiva (-/-). Ear,
nose, and mouth was in normal limit.
Thorax: Symmetrical fusiform. Chest retraction was not found. HR: 96 x/i, regular,
murmur was not found. RR: 22 x/i, reguler, ronchi was not found.Breath sound:
vesicular. Additional sound was not found.
Abdomen: Soepel, liver unpalpable, spleen unpalpable. Peristaltic (+) normal.
Extremities: Pulse 98 x/i, regular, adequate pressure and volume, warm, CRT < 3.
Hematoma was found in the left knee.

Hemophilia A

outpatient

Laboratory Findings :
April, 22nd 2015

Parameters

Patient

Control

aPTT

44,8 sec

32,0 sec

March, 17th 2015

Parameters

Value

Normal Value

Factor VIII

2,7 %

55-150 %

Factor IX

70,9 %

70-140 %

SUMMARY
MVN, a 6 year 3 months old boy, with 19
kg of body weight and 115 cm of body
length with chief complaint of left knee
swelling was diagnosed with Hemophilia A
The diagnosis was established based on
history talking, clinical manifestation and
laboratory findings.