CASE REPORT
Hemophilia A
Compiled by:
Sophia Khairina K.
Supervisor:
dr. Selvi Nafianti, [Link](Ped), Sp.A(K)
INTRODUCTION
Hemophilia is an X-linked recessive bleeding disorder
attributable to decreased blood levels of functional
procoagulant factor
Factor VIII Hemophilia A
Factor IX Hemophilia B
The incidence of hemophilia A is about 1:5000-10000 of
live male births
Hemophilia shows no apparent racial predilection,
appearing in all ethnic groups
ETIOLOGY
Hemophilia is caused by a mutation or
change, in one of the genes, that
provides instructions for making the
clotting factor proteins needed to form
a blood clot.
Hemophilia is usually inherited.
However, about 30 percent of people
with hemophilia have no family history
of the disorder and it is caused by a
genetic change (spontaneous mutation)
Rarely, hemophilia can be acquired
CLINICAL MANIFESTATIONS
Easy bruising
Intramuscular hematomas
Hemarthrosis
Classification
Factor VIII
concentration
Mild > 5% Required significant trauma to
cause bleeding
Moderate 1-5% Required mild trauma to induce
bleeding
Severe < 1% Spontaneous bleeding
DIAGNOSIS
The trend of bleeding which is hard to coagulate after one
procedure or the present of spontaneous hematome or
hemarthrosis or after having mild trauma
Positive family history with hemophilia
Prolong clotting time and prolong PTT
Reduced level of factor VIII/IX (the gold standard).
TREATMENT
Early, appropriate therapy is the hallmark of excellent
hemophilia care
It involves prophylaxis, management of bleeding episodes,
treatment of factor VIII (FVIII) inhibitors, and treatment
and rehabilitation of hemophilia synovitis
Various FVIII concentrates are available to treat
hemophilia A. Fresh frozen plasma and cryoprecipitate are
no longer used in hemophilia because of the lack of safe
viral elimination and concerns regarding volume overload.
General Guidelines for Factor Replacement for the Treatment
of Bleeding in Hemophilia
Ind ic a tio n o r Site o f Fa c to r le ve l FVIII Do se , Co m m e nt
Ble e d ing De sire d , % IU/ kg *
Se ve re e p ista xis; 20-50 10-25 C o n sid e r a m in o c a p ro ic
m o u th , lip , to n g u e , o r a c id (Am ic a r), 1-2 d
d e n ta l w o rk
Jo in t (h ip o r g ro in ) 40 20 Re p e a t tra n sfu sio n in
24-48 h
So ft tissu e o r m u sc le 20-40 10-20 No th e ra p y if site sm a ll
a n d n o t e n la rg in g
(tra n sfu se if e n la rg in g )
Mu sc le (c a lf a n d 30-40 15-20 No n e
fo re a rm )
Mu sc le d e e p (th ig h , 40-60 20-30 Tra n sfu se , re p e a t a t 24
h ip , ilio p so a s) h , th e n a s n e e d e d
Ne c k o r th ro a t 50-80 25-40 No n e
He m a tu ria 40 20 Tra n sfu se to 40% th e n
re st a n d h yd ra tio n
La c e ra tio n 40 20 Tra n sfu se u n til w o u n d
h e a le d
G I o r re t ro p e rito n e a l 60-80 30-40 No n e
b le e d in g
He a d tra u m a (n o 50 25 No n e
e vid e n c e o f C NS
b le e d in g )
He a d tra u m a 100 50 Ma in ta in p e a k a n d
(p ro b a b le o r d e fin ite tro u g h fa c to r le ve ls a t
C NS b le e d in g , e g , 100% a n d 50% fo r 14 d if
h e a d a c h e , vo m itin g , C NS b le e d in g
n e u ro lo g ic sig n s) d o c u m e n te d
Tra u m a w ith b le e d in g , 80-100 50 10-14 d
su rg e ry
COMPLICATION
Intracranial haemorrhage
Chronic arthropathy
The development of an inhibitor to either factor VIII or
factor IX
The risk of transfusion-transmitted infectious diseases.
CASE REPORT
MVN, a 6 years 5 months old boy, with 20,5 kg of BW and
121 cm of BH, came to Haji Adam Malik General Hospital on
August 31st 2015 at 14.00. His chief complaint was bruising on
the left arm and on the right leg. It has been experienced by the
patient since 3 days ago. There is no spontant bleeding. There
was a history of bruising on both of the leg and unable to move
the ankle when he was one year old. The patient has already
been diagnosed as hemophilia A when he was one year and 4
months old. History of family having the same symptom and
disease was not found. The patient was the old patient of Haji
Adam Malik General Hospital and also come to get Koate
injection (20-30 IU/kgBW/12hour) in three days.
History of medication: Koate injection
History of family: None
History of parent’s medication: None
History of pregnancy: Patient’s mother was 25 years old during pregnancy.
The gestational age was 28 months
History of birth: Birth was assisted by Midwife. Baby was born by normal
delivery and cried spontaneously. Bluish was not found. Body weight was
1800 gram, body length and head circumference was not remembered.
History of feeding: 2 months of breast feeding and then continued with
formula milk until age 2. Family food was givenf rom 24 months onwards.
History of immunization: Complete
History of growth and development: Patient’s mother explained that he
grew normally. He was able to talk, crawl and walk appropriately based on
his age.
PHYSICAL EXAMINATION
Present status: Sensorium : compos mentis, body temperature: 36.5°C, HR: 96
bpm, RR: 22 x/i, BW: 20,5 kg, BH: 121 cm, BW/A: 91%, BL/A: 103%, BW/BL:
89%, anemic (-), icteric (-), dyspnea (-), cyanosis (-), edema (-), bruise (+).
Localized status:
Head
Eyes: Pale on inferior palpebral conjunctiva(-/-), scleral icterus (-/-), light reflex (+/+),
isochoric pupil.
Ears: within normal range
Nose: within normal range
Mouth : within normal range
Neck : JVP: R-2 cmH2O, Lymph node enlargement (-)
Thorax : Symmetrical fusiform, retraction (-)
HR: 96 bpm, regular, murmur (-)
RR: 22 x/i, regular, ronchi (-/-)
Abdomen: tenderness (-), normal peristaltic, liver and spleen: undeterminable
Extremities : Bruise (+) on the left arm and on the right leg, pulse 96 bpm,
regular, adequate p/v, felt warm, CRT < 3”
Anogenital : Male, not circumcised
LABORATORY FINDING
Complete blood analysis (August 14th 2010)
Test Result Unit References
Hemoglobin 11.4 g% 11.3-14.1
6 3
Erythrocyte 4.45 10 /mm 4.40-4.48
Leucocyte 8.44 10 /mm3
3
6.0-17.5
Thrombocyte 372 103/mm3 217-497
Hematocrite 31.60 % 37-41
Eosinophil 7.80 % 1-6
Basophil 0.20 % 0-1
Neutrophil 36.90 % 37-80
Lymphocyte 47.40 % 20-40
Monocyte 7.70 % 2-8
3
Neutrophil 3.11 10 /µL 1.9-5.4
absolute
Lymphocyte 4.00 103/µL 3.7-10.7
absolute
Monocyte 0.65 103/µL 0.3-0.8
absolute
Eosinophil 0.66 103/µL 0.20-0.50
absolute
Basophil absolute 0.02 103/µL 0-0.1
MCV 81.2 fL 81-95
MCH 26.2 Pg 25-29
MCHC 30.40 g% 29-31
Clinical Chemistry (August 14th 2010)
Test Result Unit References
Hemostatic Function
Factor VIII 36.3 % 55-150
Factor IX 126 % 70-140
Clinical Chemistry (May 19th 2014)
Test Result Unit References
Hemostatic Function
Factor VIII 1.2 % 55-150
Factor IX 72.2 % 70-140
Clinical Chemistry (March 17th 2015)
Test Result Unit References
Hemostatic Function
Factor VIII 2.7 % 55-150
Factor IX 70.9 % 70-140
THERAPY
Inj. Koate 20-30 IU/kgBW/12hour/IV = 420-630
IU/12hour/IV
Diet MB 1500 kkal with 41 gr protein
Threeway
FOLLOW UP
Aug 31st 2015
S O A P
Bruising on the left arm Sens : Compos Mentis Hemophilia A Inj. Koate 20-30
and on the right leg BW: 20,5 kg, BH: 121 cm IU/kgBW/12hour/
IV = 420-630
Head:
IU/12hour/IV
Eyes: Pale on inferior palpebral conjunctiva(-/-), scleral
(day 1)
icterus (-/-), light reflex (+/+), isochoric pupil.
Diet MB 1500
E/N/M: within normal range
Neck: JVP: R-2 cmH2O, Lymph node enlargement (-) kkal with 41 gr
Thorax : Symmetrical fusiform, retraction (-), HR: 96 protein
bpm, regular, murmur (-), RR: 22 x/i, regular, ronchi (-/-) Threeway
Abdomen: tenderness (-), normal peristaltic, liver and
spleen: undeterminable
Extremities : Bruise (+) on the left arm and on the right
leg, pulse 96 bpm, regular, adequate p/v, felt warm, CRT
< 3”
Sep 1st 2015
S O A P
Bruising on the left arm Sens : Compos Mentis Hemophilia A Inj. Koate 20-30
and on the right leg BW: 20,5 kg, Temp: 37 C IU/kgBW/12hour/
IV = 420-630
Head:
IU/12hour/IV
Eyes: Pale on inferior palpebral conjunctiva(-/-), scleral
(day 2)
icterus (-/-), light reflex (+/+), isochoric pupil.
Diet MB 1500
E/N/M: within normal range
Neck: JVP: R-2 cmH2O, Lymph node enlargement (-) kkal with 41 gr
Thorax : Symmetrical fusiform, retraction (-), HR: 94 protein
bpm, regular, murmur (-), RR: 24 x/i, regular, ronchi (-/-) Threeway
Abdomen: tenderness (-), normal peristaltic, liver and
spleen: undeterminable
Extremities : Bruise (+) on the left arm and on the right
leg, pulse 94 bpm, regular, adequate p/v, felt warm, CRT
< 3”
Sep 2nd 2015
S O A P
Bruising on the left arm Sens : Compos Mentis Hemophilia A Inj. Koate 20-30
BW: 20,5 kg, Temp: 36,6 C IU/kgBW/12hour/
IV = 420-630
Head:
IU/12hour/IV
Eyes: Pale on inferior palpebral conjunctiva(-/-), scleral
(day 3)
icterus (-/-), light reflex (+/+), isochoric pupil.
Diet MB 1500
E/N/M: within normal range
Neck: JVP: R-2 cmH2O, Lymph node enlargement (-) kkal with 41 gr
Thorax : Symmetrical fusiform, retraction (-), HR: 92 protein
bpm, regular, murmur (-), RR: 24 x/i, regular, ronchi (-/-) Threeway
Abdomen: tenderness (-), normal peristaltic, liver and
spleen: undeterminable
Extremities : Bruise (+) on the left arm and on the right
leg, pulse 92 bpm, regular, adequate p/v, felt warm, CRT
< 3”
Sep 3rd 2015
OUTPATIENT
DISCUSSION
The patient is a 6 years 5 months old boy. The incidence of hemophilia A is about 1:5000-10000 of live male
births. Hemophilia A is often diagnosed in boys, because hemophilia is an X-linked, recessive condition. Females
are usually asymptomatic carriers. Hemophilia shows no apparent racial predilection, appearing in all ethnic
groups.
Patient was admitted to the hospital with a chief complaint of bruising on the left arm and on the right leg. In
hemophilia A, obvious symptoms such as easy bruising, intramuscular hematomas, and hemarthroses begin when
the child begins to cruise.
In this case, history of family having the same symptom and disease was not found. Hemophilia is usually
inherited by X-linked recessive gene. However, about 30 percent of people with hemophilia have no family
history of the disorder. In these people hemophilia is caused by a genetic change (spontaneous mutation). 7 It
means that the patient isn't born with the disorder, but he develop it during his lifetime. This can happen if the
body forms antibodies (proteins) that attack the clotting factors in the bloodstream. The antibodies can prevent the
clotting factors from working.
In this case, the amount of Factor VIII is 36,3% (below the normal range) and the amount of Factor IX is 126%
(within the normal range). It means that the patient is lack of factor VIII, and it shows that he is having
hemophilia A.
The patient has been treated with Koate injection. It is an antihemophilic Factor VIII. The treatment of hemophilia
may involve prophylaxis, management of bleeding episodes, treatment of Factor VIII (FVIII) inhibitors, and
treatment and rehabilitation of hemophilia synovitis. Use of factor replacement products and other medications,
including pain medications, is typically required.
SUMMARY
MVN, a 6 years 5 months old boy, came to Haji Adam Malik
General Hospital on August 31st 2015 with chief complaint of
bruising on the left arm and on the right leg. Based on
anamnesis, physical examination, and laboratory assesment,
he was diagnosed with hemophilia A and was given treatment
of the followings: Koate injection 20-30 IU/kgBW/12hour/IV
(Diet MB 1500 kkal with 41 gr protein).
