LONG CASE REPORT

Hemophilia, Post circumcision hemorrhage, Hospital

acquired pneumonia, Anemia due to acute blood loss,

Severely underweight, Severe Malnutrition, Incomplete

immunization

Rahmad Ramadhani, MD

LOCAL BOARD EVALUATION

December, 2022
INDONESIAN COLLEGE OF PEDIATRICS
I. PATIENT IDENTITY
Name : Child MAA Father’s name : Mr. R
Sex : Male Age : 33 years-old
Age : 2 years 6 months old Educational : Elementary school
Address : Batola Occupation : Farmer
Hospitalized : November 11th 2022 Mother’s name : Mrs. N
Age : 32 years-old
Educational : Elementary school
Occupation : Housewife

II. HISTORY TAKING

A. Chief complaint: Bleeding at the circumcision wound (alloanamnesis with parents)
B. History of present illness: There was an active bleeding at circumcision site 5 hours before
admission, with no other bleeding manifestation. The patient undergoing circumcision at Ulin
Hospital 11 days before admission. Patient already diagnosed with Hemophilia B on June
2022 at Ulin Hospital and got anti hemophilia factor (AHF) IX before and after circumcision.
Patient discharged by permission 6 days before admission without bleeding manifestation at
circumcision wound. At home patients uses specialized postcircumcision underwear, limited
activity, and no history of trauma. Patient got intermittent fever since 3 days before admission,
temperature was not measured. There was productive cough, with no additional breathing
sound or shortness of breath and runny nose with clear mucous. Patient got shortness of
breath 1 day before admission, no bluish at lip or fingertip, without additional breathing sound.
No history of choking, no nausea, no vomiting, no watery stool, no pale, normal urination and
normal defecation. After discharged from hospital 6 days prior admission, patient only stay at
home and no family member had respiratory tract infection.
C. Past medical history: Patient underwent factor VIII and IX examination on June 2022 and
diagnosed with hemophilia B. Patient got on demand therapy for AHF IX. There was history
of PRC transfusion due to bleeding with no history of transfusion reaction. The patient already
screened for tuberculosis (TST, AFB sputum, rapid molecular testing for tuberculosis) during
previous hospitalization with negative results.
D. Family history: Patient’s uncle (from mother’s family) had history of bleeding disorder and
died at 12 years old after circumcision. No history of bleeding disorder in fathers family and
all the cousins. Mothers did not know clearly about history of bleeding disorder in grandfather
and grandfather’s brother and sister. No history of malignancy in the family and no history of
chronic cough or allergy.
E. Pregnancy and birth history: Patient was born at term, normal birth, immediately cry,
assisted by midwife, body weight of 2800 gram, birth length 50 cm and head circumference
34 cm. There was no history of active resuscitation, no pale, icteric, seizure.
F. Nutritional history: Breast milk from birth until 24 months old, 8-10 times/day, 10-15 minutes
each. Milk porridge as a complementary food since 6 months old, 2-3 times/day about 6-8
teaspoons. Family meal since 1 years old until now, 2-3 times a day, about 4-5 spoon of rice
each with chicken, eggs, fish, and rarely eat vegetables and fruits. Formula milk since 2 years
old until now 1 times a day, 100 mL each (670-820 kcal, 53,6%-65,6% RDA).
G. Growth and development history: Patient BW at 6 month old was 6,2 kg (-2<Z<0 SD WHO
BW for Age growth curve). Patient BW at 1 years old was 7,6 kg (-3<Z<-2 SD WHO BW for
Age growth curve). Patient BW at 2 years old was 8,0 kg (Z<-3 SD WHO BW for Age growth
curve). The patient has met the milestones that are appropriate for his age. Patient could run,
jump, climbing up the stairs, combined 4 words, and undress without assistance.
H. Immunization history: The patient receives BCG (1), Polio (4), Hep B (4), DTwP (3), Hib (4),
MR (1).
I. Basic child needs history
Biological needs: Patient got sufficient attention and all the basic support for his living in his
age such as appropriate clothing and food
Physic-social: Patient lives with her parents. Her parents taking care of her with love,
tenderness and well attention. During admission, he always accompanied by her mother.
Mental stimulation and emotional needs: Patient received adequate stimulation for her
development from her parents.

Longitudinal case – Local Board Evaluation, December 2022 2

J. Social economic background: Patient is the second child, The first child is female, 9 years
old. The patient lives with his father, mother and oldest sister in riverside rural area in Batola,
far from an industrial area. There’s no mining site near patient’s house. His father is a farmer,
and not an active smoker. The family use a gas stove for cooking and used river water for
daily needs and refill water for drinking and cooking. Parent usually used electric mosquito
repellent inside the house. No pet at house. No history of cough, flu, fever, sore throat,
anosmia, shortness of breath and diarrhea. history of contact with suspected or confirm
COVID-19 patient within for everyone at the same house was denied All of them claim always
wear cloth mask outside, routinely wash their hands

PHYSICAL EXAMINATION
Physical
Description
Examination
Anthropometri Status Body weight : 8,0 kg
Body length : 85 cm
Mid-upper arm circumference : 12 cm
Head circumference : 46 cm (Z = -1 SD, WHO 2005)
Weight for age : Z < -3 SD, WHO 2005
Height for age : -2 <Z < 0 SD, WHO 2005
Weight for height : Z < -3 SD, WHO 2005
Ideal body weight : 12.5 kg
Height age : 1 years 9 months old

General appearance Less active, pale, no icteric, no cyanotic, no edema

Vital sign Blood Pressure 95/60 mmHg(P50-90), Pulse rate 144 times/min, adequate
pulse, regular; respiratory rate 48 times/min; axillar temperature 37.9o C,
SpO2 89% in room air, 96% with 2 l/m oxygen supplementation.
Head Normocephalic, black hair, not easily fall out
Face : symmetrical, no dysmorphic, no palpebra edema, no old face
Eyes : symmetrical eyeball movement, conjunctiva anemic, sclera not
icteric, pupil was round and isochoric, diameter 3 mm/mm, light
reflex was positive
Nose : nasal flare, no hyperemic conchae, no nasal discharge
Ear : no ear discharge, no tragus pain
Mouth : wet mucous surface, no hyperemic pharynx and tonsil, no tonsil
enlargement (T1/T1), no glossitis, no angular stomatitis
Neck No lymph nodes enlargement
Axilla No lymph nodes enlargement
Thorax Normal shape, wasted ribs, symmetrical chest wall movement, subcostal
retraction
Heart : ictus cordis not visible and not palpable, normal heart sound, no
murmur and gallop
Lung : vesicular sound, fine crackles at middle to lower lobe of right lung,
no wheezing, no prolonged expiration
Abdomen Soefl, normal bowel sound, tympanic, no shifting dullness or undulation; no
enlargement of liver, no palpable lien, normal skin turgor
Extremities Warm extremities, capillary refill time 2 second, baggy pants, no edema, pale
at palmar, no koilonychia, no bruises.
Urogenital Male, active bleeding at coronal glans penis, no erythema at orifisum uretra
externum.
Vertebrae No defect
Skin No striae, no dermatosis
Neurological state Fully alert, Glasgow coma scale E4V5M6, no meningeal sign, no cranial
nerve paralysis, no pathological reflex, normal physiological reflex, sensory
& motoric function.

III. SUPPORTING EXAMINATION

Examination Results
Complete blood count Hemoglobin 8.8 g/dL; erythrocyte 3,240,000/µL; leucocyte 6,600 /µL;
hematocrit 26%; thrombocyte 337,000/μl; MCV 80.2 fL; MCH 27.2 pg; MCHC
33.8 g/dL; neutrophil 55.3%; lymphocyte 37.1%; monocyte 7.4%; RDW
12,8%, Mentzer index 24,7; RDW index 316,6

Longitudinal case – Local Board Evaluation, December 2022 3

 Blood Exam AST: 71 U/L, ALT:11 U/L, Ureum:6 mg/dl, Creatinine:0.36 mg/dl, Uric Acid:
3.1 mg/dl, LDH: 866 U/L, Ca: 8.8 Meq/L, Na:138 Meq/L, K: 3.6 Meq/L, Cl:
111/Meq/L

Blood Coagulation test PT: 11.5 (1.06x), APTT 80.6(3.25x), INR:1.06

Hemophilic Factor FVIII:161.7% , FIX:0.7%
Swab SARS-CoV-2 Negative
antigen
Chest x-ray Infiltrate at lower lobe right lung

IV. SUMMARY
Male, 2 years 6 months old, came to hospital due to active bleeding at circumcision site
since 5 hours before admission, patient also got fever, productive cough and runny nose since
3 days before admission. There was shortness of breath found since 1 day before admission.
Patient already diagnosed hemophilia B since June 2022. On his family history patient uncle
have bleeding disorder and passed away due to bleeding when circumcised. Patient got
incomplete immunization based on his age. On Physical examination there were pale
conjunctiva and pale extremities, subcostal retraction, fine crackles at middle to lower lobe of
right lung. Bleeding at coronal glans penis, wasted ribs and baggy pants. On laboratory finding
there were normocytic normochromic anemia, prolonged PT, low level of Factor IX, increase in
LDH. On chest Xray examination : Infiltrate at lower lobe right lung.

V. WORKING DIAGNOSIS
1. Post-circumcision hemorrhage (N99.820)
2. Severe hemophilia B (D68.311)
3. Hospital-acquired pneumonia (J18.9)
4. Anemia normocytic normochromic due to acute blood loss (D64.9)
5. Severely underweight (R63.6)
6. Weight faltering (R62.51)
7. Severe Malnutrition marasmic type transition phase (E.43)
8. Incomplete immunization (Z28.3)

VI. PROBLEM LIST

Bleeding at circumcision site, shortness of breath, fever, productive cough, under
immunization status, tachycardia, tachypnea, hyperthermia, pale conjunctiva and extremities,
subcostal retraction, fine crackles at middle to lower lobe of the right lung, wasted ribs, baggy
pants, bleeding at coronal glans penis, normocytic normochromic anemia, Mentzer index >13,
RDW index >220, low level of Factor IX, increase in LDH and Infiltrate at lower lobe right lung
from chest X-Ray.

VII. PLANNING MANAGEMENT

A. Planning diagnosis: Complete Blood Count, Peripheral blood smear, Sputum culture,
Blood culture.
B. Planning therapy: IV Ceftriaxone 1x1gr, IV Paracetamol 3x100 mg, PO ambroxol 3x3
mg, PO Vit A 200.000 IU (day I and II) PO Vit B comp 1 x 1 tab, PO Vit C 1 x 50 mg,
PO Vit D 1 x 400 IU Folic acid 5 mg on day 1 continue with 1 x 1 mg, AHF 500 IU/24
hour, PRC transfusion 100 mL, 2 l/m oxygen supplementation.
C. Planning Nutritional Therapy: Calorie 100 x 8 kg = 800 kcal/day, Protein 2 x 8 kg =
16 g/day, Fluid 150 x 8 = 1200 ml/day. Route: enteral. Type of food: F-100 8x100
mL/day, Total calorie 800 kcal, total protein 23,2 gr.
D. Planning of monitoring: Vital signs, bleeding manifestation, FLACC, diuresis, balance
diuresis, oxygen saturation, a sign of respiratory distress, transfusion reaction, antibiotic
response
E. Planning of education: Educate the family about the patient’s condition, planning
examination, planning management, and prognosis.

Longitudinal case – Local Board Evaluation, December 2022 4

VIII. PROGNOSIS

Ad vitam : bonam

Ad functionam : dubia ad bonam

Ad sanationam : malam

Longitudinal case – Local Board Evaluation, December 2022 5

IX. FOLLOW-UP AND MONITORING SCHEME
Day of care II Day of care III Day of care IV Day of care V

General appearance: Bleeding manifestation
(-), shortness of breath (+) cough (+), fever (-),
desaturation (-), diet (+) enteral route
Vital sign: BP: HR 122 bpm, regular, adequate,
RR : 28 times/min, regular, T axilla 36.90C, SpO
: 98% with 2 l/m oxygen supplementation, BW
8,1 Kg
Active bleeding (-), Nasal flare (+)
Fine crackles in right lower hemithorax (+)
Planning
- Continue antibiotic
- PRC transfusion
- AHF IX transfusion
- Monitor diet tolerancy and tolerability
General appearance: Bleeding manifestation
(-), shortness of breath (+) cough (+), fever (-),
desaturation (-), diet (+) enteral route
Vital sign: HR 132 bpm, regular, adequate, RR :
24 times/min, regular, T axilla 37.60C, SpO :
99% with 2 l/m oxygen supplementation, BW
8,2 Kg
Active bleeding (-), Nasal flare (+)
Fine crackles in right lower hemithorax (+)
Planning:
Complete blood count and reticulocyte
evaluation post transfusion
AHF IX transfusion
General appearance: Bleeding manifestation
(-), shortness of breath (-) cough (+), fever (-),
desaturation (-), diet (+) enteral route
Vital sign: HR 118 bpm, regular, adequate, RR :
30 times/min, regular, T axilla 36.50C, SpO :
99% with 2 l/m oxygen supplementation, BW
8,2 kg
Active bleeding (-), Nasal flare (-)
Fine crackles in right lower hemithorax (+)
Laboratory: Hemoglobin 15.7 g/dL, Leucocyte
5,400/uL, thrombocyte 197,000/uL, CRP=37.4
mg/L, reticulocyte 4,5%.
Peripheral blood smear: normocytic
normochromic anemia
Planning: Oxygen supplementation 1 l/m
Calorie 150 kcal/KgBW/day, Protein 3
gr/KgBW/day
Iron profile examination
General appearance: Bleeding manifestation
(-), shortness of breath (-) cough (+), fever (-),
desaturation (-)
F-100 (+) enteral route, congee only 1-2 spoon
Vital sign: HR 100 bpm, regular, adequate, RR :
25 times/min, regular, T axilla 36.70C, SpO :
95% with 1 l/m oxygen supplementation, BW
8,3 kg
Active bleeding (-), Nasal flare (-)
Fine crackles in right lower hemithorax (+)
Planning :
Continue antibiotic until day 7th, IV
paracetamol if needed

1. Post circumcision hemorrhage (improved) (N99.820) 1. Post circumcision hemorrhage (improved) (N99.820)
2. Hemophilia B (D68.311) 2. Hemophilia B (D68.311)
3. Hospital acquired pneumonia (J18.9) 3. Hospital acquired pneumonia (J18.9)
4. Normocytic normochromic anemia ec blood loss (D64.9) 4. Severely underweight (R63.6)
5. Severely underweight (R63.6) 5. Weight faltering (R62.51)
6. Weight faltering (R62.51) 6. Severe malnutrition marasmic type transition phase (E.43)
7. Severe malnutrition marasmic type transition phase (E.43) 7. Incomplete immunization (Z28.3)
8. Incomplete immunization (Z28.3) 8. History of anemia ec blood loss (D64.9)

− O2 2 l/m − O2 2 l/m − O2 1 l/m − O2 1 l/m

− AHF 500 IU/24 jam − AHF 500 IU/24 jam − AHF 500 IU/24 jam − AHF 500 IU/24 jam
− PRC transfusion 100 ml − IV Ceftriaxon 1 x 1 gr (day 3rd) − IV Ceftriaxon 1 x 1 gr (day 4th) − IV Ceftriaxon 1 x 1 gr (day 5th)
− IV Ceftriaxon 1 x 760 mg (Day 2nd) − IV paracetamol 3 x 100 mg − IV paracetamol 3 x 100 mg − IV paracetamol 3 x 100 mg (if needed)
− IV paracetamol 3 x 100 mg − PO ambroxol 3x3 mg − PO ambroxol 3x3 mg − PO ambroxol 3x3 mg
− PO ambroxol 3x3 mg − Po Vit B comp 1 x 1 − Po Vit B comp 1 x 1 − Po Vit B comp 1 x 1
− Po Vit A 200.000 IU (Day 2nd) − Po. Vit C1 x 50 mg − Po. Vit C1 x 50 mg − Po. Vit C1 x 50 mg
− Po Vit B comp 1 x 1 − Po. Vit D 1 x 400IU − Po. Vit D 1 x 400IU − Po. Vit D 1 x 400IU
− Po. Vit C1 x 50 mg, Po. Vit D 1 x 400 IU − Po. Folic acid 1 x 1 mg − Po. Folic acid 1 x 1 mg − Po. Folic acid 1 x 1 mg
− Po. Folic acid 1 x 1 mg

Diet F-100 8 x 100 ml (800 kcal, protein 23,2 gr) Diet F-100 8 x 150 ml (1200 kcal, protein 34,8 gr)

Longitudinal case – Local Board Evaluation, December 2022 6

 Day of care VI Day of care VII Day of care VIII Day of care IX

General appearance: Bleeding manifestation
(-), shortness of breath (-) cough (<), fever (-),
F-100 (+) enteral route, congee only 1-2 spoon
Vital sign: HR 110 bpm, regular, adequate, RR:
30 times/min, regular, T axilla 36.90C, SpO :
99% O2 1 l/m, BW 8,3 kg
Active bleeding (-) Nasal flare (-)
Fine crackles in right lower hemithorax (+)
General appearance: Bleeding manifestation
(-), shortness of breath (-) cough (<), fever (-),
diet (+) enteral route
Vital sign: HR 110 bpm, regular, adequate, RR:
32 times/min, regular, T axilla 36.90C, SpO :
99% O2 1 l/m, BW 8,3 kg
Active bleeding (-) Nasal flare (-)
Fine crackles in right lower hemithorax (+)
General appearance: Bleeding manifestation
(-), shortness of breath (-) cough (<), fever (-),
diet (+) enteral route
Vital sign: HR 110 bpm, regular, adequate, RR:
30 times/min, regular, T axilla 36.90C, SpO :
99% O2 1 l/m, BW 8,5 kg
Active bleeding (-) Nasal flare (-)
Fine crackles in right lower hemithorax (+)
General appearance: Bleeding manifestation
(-),shortness of breath (-) cough (-), fever (-),
diet (+) enteral route
Vital sign: HR 140 bpm, regular, adequate, RR:
24 times/min, regular, T axilla 36.50C, SpO :
99% room air
Active bleeding (-) Nasal flare (-)
Fine crackles in right lower hemithorax (+)

Iron profile : Serum Iron 240 uL/dL; TIBC 265
uL/dL; Transferrin saturation 91%; Ferritin
1530.67 n/ml
Planning: Continue antibiotic, AHF IX
transfusion, Calorie 200 kcal/KgBW/day,
Protein 4 gr/KgBW/day
diet F-135 and strained porridge
Sputum culture: No aerobic bacteria
Blood culture: No aerobic bacteria
Planning: complete blood count, chest X ray
evaluation, stop IV paracetamol
Laboratory: Hemoglobin 15.3 g/dL, Leucocyte Planning : continue antibiotic ceftazidime,
7,500/uL, thrombocyte 399,000/uL Stop oxygen supplementation
Chest X ray : Right bronchopneumonia
Planning: Stop AHF IX transfusion, antibiotic
ceftazidime, increased strained porridge
volume

1. Post circumcision hemorrhage (improved) (N99.820) 1. Post circumcision hemorrhage (improved) (N99.820)
2. Hemophilia B (D68.311) 2. Hemophilia B (D68.311)
3. Hospital acquired pneumonia (J18.9) 3. Hospital acquired pneumonia (J18.9)
4. Severely underweight (R63.6) 4. Severely underweight (R63.6)
5. Weight faltering (R62.51) 5. Weight faltering (R62.51)
6. Severe malnutrition marasmic type stabilization phase condition (E.43) 6. Severe malnutrition marasmic type transition phase (E.43)
7. Incomplete immunization (Z28.3) 7. Incomplete immunization (Z28.3)
8. History of anemia ec blood loss (D64.9) 8. History of anemia ec blood loss (D64.9)
9.
− IV acces − IV acces − IV acces − IV acces
− O2 1 l/m − O2 1 l/m − O2 1 l/m − IV Ceftazidime 3 x 300 mg (day 2nd)
− AHF 500 IU/24 jam − AHF 500 IU/24 jam − IV Ceftazidime 3 x 300 mg (day 1st) − PO ambroxol 3x3 mg
− IV Ceftriaxon 1 x 1 gr (day 6th) − IV Ceftriaxon 1 x 1 gr (day 7th) − PO ambroxol 3x3 mg − Po Vit B comp 1 x 1
− IV paracetamol 3 x 100 mg (if needed) − PO ambroxol 3x3 mg − Po Vit B comp 1 x 1 − Po. Vit C1 x 50 mg
− PO ambroxol 3x3 mg − Po Vit B comp 1 x 1 − Po. Vit C1 x 50 mg − Po. Vit D 1 x 400IU
− Po Vit B comp 1 x 1 − Po. Vit C1 x 50 mg − Po. Vit D 1 x 400IU − Po. Folic acid 1 x 1 mg
− Po. Vit C1 x 50 mg − Po. Vit D 1 x 400IU − Po. Folic acid 1 x 1 mg
− Po. Vit D 1 x 400IU − Po. Folic acid 1 x 1 mg
− Po. Folic acid 1 x 1 mg

Strained porridge 3x100 mL (338 kcal) and F-135 6x150 mL (1,215 kcal) Strained porridge 3x200 mL (677 kcal) and F-135 5x150 mL (1,012.5 kcal)
Total calorie 1,553 kcal, protein 45.3 gram Total calorie 1,689,5 kcal, protein 55,9 gram

Longitudinal case – Local Board Evaluation, December 2022 7

 X. CASE ANALYSIS SCHEME

Limit activity
History of
circumcision 11
days ago Post circumcision
Pain management
hemorrhage
Active bleeding at
circumcision wound Keep wound clean
and dry
Shortness of breath

Fever

O
Productive cough
P
Tachypnea Antibiotics T
I
Nasal flare Pneumonia Supportive therapy M
A
Fine crackles in
lung auscultation
Education L
Response Therapy
Chest X ray
infiltrate
G
Compliance R
Bleeding O
History of family
W
with bleeding AHF Therapy Long term effect of T
disorder Hemophilla B
disease and H
Prolonged APTT
treatment
Education
A
Low level factor IX
N
D
Bleeding
Blood transfusion

Pale Anemia e.c blood D

loss
Stop Bleeding
E
Anemia Normocytic
normochromic
V
E
Under Under immunization Catch up L
immunization immunization Quo ad vitam: bonam
Quo ad sanam: malam
O
Low intake
Quo ad fungsionam: dubia at
bonam
P
M
Weight/Age: Z<-3
SD, Weight/ Height:
Severe malnutrition
marasmic type
Nutrition E
Z<-3SD N
Baggy pants and
T
wasted ribs

PROBLEM LIST DIAGNOSIS TREATMENT PROGNOSIS

XI. CASE ANALYSIS

Two years 6 months-old boy came to the hospital due to active bleeding at the
circumcision wound for 5 hours before admission. The patient also had a fever, productive cough
and runny nose in the last 3 days, followed by shortness of breath 1 day before admission. The
patient had under immunization status. Physical examination showed tachycardia, tachypnea,
fever, pale conjunctiva and extremities, nasal flare, subcostal retraction, fine crackles at the
middle to lower lobe of the right lung, wasted ribs, baggy pants, and active bleeding at the
circumcision wound. Laboratory results showed normocytic normochromic anemia, prolonged
Longitudinal case – Local Board Evaluation, December 2022 8
aPTT, low level of Factor IX, increase in ferritin, serum iron, transferrin saturation, and LDH level.
The chest x-ray showed an infiltrate at the lower lobe right lung. The patient was diagnosed with
post-circumcision hemorrhage, hemophilia B, hospital-acquired pneumonia, anemia due to acute
blood loss, severely underweight, weight faltering, severe malnutrition marasmic type transition
phase, and incomplete immunization.
Hemophilia is a recessive X-linked disorder caused by lack or deficiency of clotting
factor. Hemophilia A (deficiency in factor FVIII) and hemophilia B (deficiency in FIX) are the most
common serious congenital coagulation factor deficiencies.1 Hemophilia A is much more
common than hemophilia B. Hemophilia A is estimated to account for 80%-85% of all hemophilia
cases; hemophilia B is estimated to account for 15%-20% of all hemophilia cases. A meta-
analysis by Alfonso Iorio et al (2019), showed that prevalence at birth (per 100 000 males) is 24.6
cases for all severities of hemophilia A, 9.5 cases for severe hemophilia A, 5.0 cases for all
severities of hemophilia B, and 1.5 cases for severe hemophilia B (LoE 3A).2
Hemophilia is the only hereditary clotting diseases inherited in a sex-linked recessive
pattern. Hemophilia is usually inherited through an X chromosome with an F8 or F9 gene
mutation. However, both the F8 and F9 genes are prone to new mutations, and about 30% of all
cases result from spontaneous genetic variants. Prospective studies report that over 50% of
people newly diagnosed with severe hemophilia have no prior family history of hemophilia.
Hemophilia usually affects only males who inherit an affected maternal X chromosome. Females
with hemophilia are rare; in such cases, both X chromosomes are affected or one is affected and
the other is inactive.3 In this case patient have prior family history of hemophilia (uncle).
Hemophilia should be suspected in individuals presenting with a history of any of these
symptoms: easy bruising; spontaneous bleeding (i.e., bleeding for no apparent/known reason),
particularly into the joints, muscles, and soft tissues; and excessive bleeding following trauma or
surgery.3 Both hemophilia A and hemophilia B will result in prolongation of the aPTT, except in
the milder forms. Hemophilia B is diagnosed by measurement of FIX activity in plasma using a
one-stage clot-based or chromogenic substrate assay. HB is defined as severe if FIX activity is
less than 1% (<1 U/dL), moderate if the level is 1-5% (1-5 U/dL) and mild if the level is greater
than 5% but less than 40% (>5 to < 40 U/dL).4 In this case, patient already diagnosed severe
hemophilia B based on history easy bruising, prolonged aPTT and low FIX (0,7%).
Clotting factor concentrates (CFCs) are the treatment of choice for people with
hemophilia as they are very safe and effective for treating and preventing bleeds. Factor IX CFCs
are categorized into two classes: Pure FIX CFCs, which may be plasma-derived or recombinant
and FIX CFCs that also contain factors II, VII, IX, and X, known as prothrombin complex
concentrates (PCCs). In the managements of hemophilia, prophylactic and episodic therapies
with factor administration are widely used. Prophylactic therapy, defined as factor administration
in the absence of bleeding, is a therapeutic strategy to reduce bleeding and its long-term
complications such as chronic arthropathy, especially in severe hemophilia. On the other hand,
episodic or on-demand therapy is referred the factor administration in the presence of bleeding
and has been proposed as an alternative in the context of mild or moderate factor deficiency with
a decreased clinical bleeding phenotype.3
Prophylactic therapy can be classified based on when the therapy is initiated. Primary
prophylaxis therapy if regular continuous prophylaxis started in the absence of documented joint
disease, and before the second clinically evident joint bleed; secondary prophylaxis therapy if
initiated after 2 or more joint bleeds but before the onset of joint disease; tertiary prophylaxis
therapy if initiated after the onset of documented joint disease.5 Based on prophylactic intensity,
prophylactic therapy can be classified as high- dose prophylaxis: 40- 60 IU FIX/kg twice per week
(>4000 IU/kg per year); Intermediate-dose prophylaxis: 20- 40 IU FIX/kg twice per week (2000-
4000 IU/kg per year); Low- dose prophylaxis: 10- 15 IU FIX/kg 2 days per week (1000- 1500 IU/kg
per year).3 A meta-analysis by Delgado-Flores et al (2022), showed that compared to the episodic
treatment group, the annualized bleeding rate was significantly lower in the prophylactic group.
In addition, compared to the episodic treatment group, the annualized joint bleeding rate was
significantly lower in the prophylactic group (LoE 1A).6 In this case, patient diagnosed with severe
hemophilia B and planned to give prophylactic therapy of pure FIX CFCs, but due to high cost
problem patient received only received on-demand therapy.
Circumcision is a widely practiced surgical procedure; up to 30%of the male population
in the world are circumcised.7 Medical benefits of circumcision include reduced risk of sexually
transmitted diseases, reduced risk of carcinoma of the penis, and reduced risk of cervical cancer

Longitudinal case – Local Board Evaluation, December 2022 9

in sexual partners of circumcised males.8 In hemophilia, circumcision is associated with a number
of complications including prolonged bleeding, infection, delayed skin healing/increased
morbidity, gangrene, human immunodeficiency virus (HIV) and hepatitis infection acquired
through contaminated blood products to treat bleeding, risk of neonatal inhibitor development,
psychosocial scarring, and risk of mortality.3 The plasma factor level should be raised to 80-100
IU/dL just prior to the circumcision. After circumcision, the goal would be to maintain factor levels
above 50 IU/dL for the first 3 days, and above 30 IU/dL for the subsequent 4-8 days.A
retrospective cohort study by Bawazir and Alharbi (2021), showed that hemophilia is not an
absolute contraindication for circumcision. From 31 hemophilia children who underwent
circumcision only 6,5% had bleeding after hospital discharge, and than received additional factor
concentrate. Circumcision of hemophilic children should be performed under appropriate
conditions in hemophilia centers. Bleeding is not frequent but could be serious.9 In this case
patient already get pure FIX CFCs before circumcision until 5th day post circumcision according
to protocol and discharged without bleeding manifestation. Patient then hospitalized due to active
bleeding at circumcised site 6th day after discharged. The patient then got other series of AHF IX
injection to control the bleeding until 7th day.
Pneumonia is inflammatory condition involving the lungs, which include the visceral
pleura, connective tissue, airways, alveoli, and vascular structures.10 Hospital acquired
pneumonia is one type of pneumonia which occurs after 48 hours of hospitalization, it does not
include incubation phase and is not related to mechanical ventilation.11 The annual incidence of
pneumonia in children younger than five years from resource-limited countries in 2015 was
estimated to be 231 per 1000.4 As for HAP, the incidence was 15-29%, around 10-15% of all
nosocomial infections in children and 67% of all nosocomial infections happened in pediatric
intensive care unit (PICU). A case-control study by Shahid et al (2021), showed that persistent
diarrhea, severe acute malnutrition, bacteremia, and prolonged hospitalization of >5 days were
identified as independent risk factors for HAP (LoE 3B).12 In this case, patient has independent
risk factors for HAP: acute malnutrition and prolong hospitalization.
Studies found that gram-negative bacilli is the predominate pathogens and are
associated with a high mortality rate of around 50%. Escherichia coli, Klebsiella pneumoniae and
P. aeruginosa are the most common bacteria, comprising up to 73% of all isolates. The clinical
signs and symptoms do not distinguish between viral and bacterial causes. An abrupt increase
in fevers, difficulty breathing, and toxic appearance suggests bacterial pneumonia. The classic
presentation of bacterial pneumonia has been described as a patient with a productive cough
accompanied by abrupt onset of chills and rigors. Chest x-ray findings are usually nonspecific but
the development of new or progressive pulmonary infiltrates, consolidation or pleural effusion
may provide radiological evidence of NP.13 A meta-analysis by Rambaud-Althaus et al (2015)
showed that not one clinical feature was sufficient to diagnose pneumonia definitively and
combination of clinical features in a decision tree might improve diagnostic performance.
Features with the highest pooled positive likelihood ratios were respiratory rate higher than 50
breaths per min, grunting, chest indrawing, and nasal flaring. Features with the lowest pooled
negative likelihood ratio were cough, history of fever, and respiratory rate higher than 40 breaths
per minutes (LoE 2A).14 The basic principle of managing childhood pneumonia is the elimination
of the causative microorganism with appropriate antibiotics accompanied by other supportive
management. Appropriate empiric antibiotic therapy is essential to reduce morbidity and mortality
from HAP. Empirical therapy should cover possible pathogens, with particular attention to local
flora. American Thoracic Society guidelines for the management of adults with NP distinguish
between patients with clinically mild-to-moderate pneumonia, and those with severe pneumonia.
For patients with mild-moderate pneumonia, infection should be considered to be most likely due
to enteric (nonpseudomonal) Gram-negative bacilli, methicillin-sensitive S. aureus, or S.
pneumoniae. In these patients a second-generation cephalosporin or β-lactam/β-lactamase
inhibitor is advised.13 In this case, the pneumonia was clinically established with fever, tachypnea,
tachycardia, and crackles that found on physical examination and infiltrates on chest x ray. We
didn’t perform BAL culture because the procedure is invasive. We didn’t find any aerobic bacteria
on blood culture and sputum culture. The patient was given supportive treatment such as fluids,
oxygen, antipyretic. The patient also given empirical antibiotic ceftriaxone until 7th day. The
patient antibiotics changed to ceftazidime on day of care 8th because we still find sign of
pneumonia and no improvement on chest X-ray evaluation.
Anemia may be defined as a reduction in red blood cell (RBC) mass or blood

Longitudinal case – Local Board Evaluation, December 2022 10

hemoglobin concentration. Normal ranges for HGB and HCT vary with age and sex. The
threshold for defining anemia is an HCT or HGB at or below the 2.5th percentile for age and sex
based upon normative data from healthy individuals. The global prevalence of anemia in 2010
was 32.9%, with the highest burden in children less than five years of age.The normal range for
HGB in a child age 6 to 12 years old is approximately 11.2 to 14.5 g/dL. Anemia can be classified
according to mean corpuscular volume (MCV), a measure of the average volume of RBCs in a
specimen. Low MCV indicates microcytic, normal MCV indicates normocytic, and high MCV
indicates macrocytic. Common causes of normocytic anemia include hemolytic anemias, blood
loss, infection, medication, and anemia of chronic disease.15 In this case patient was diagnosed
with normochromic normocytic anemia with laboratory examination revealed low level of
hemoglobin based on age, and evidence of active, ongoing blood loss (at circumcised site) and
increased reticulocyte. However, due to iron deficiency remains the most common nutritional
deficiency in children and patient is on severe malnutrition, iron profile examination was
performed and the result was within normal limit. Patient got PRC transfusion with hemoglobin
target at level of 12 g/dl, to replace the ongoing loss from bleeding site.
The other problem toward this patient was under immunization status. In this case,
patient has not received booster for hepatitis B, polio, DPT, Hib, and MR that was supposedly
done at 18 months of age. He was planned to catch up schedule for his immunization after
discharge from hospital.16 Streptococcus pneumoniae is an endemic global pathogen that causes
a wide range of clinical disease in children and adults resulting resulting in 900,000 cases and
400,000 hospitalizations annually in the United States; mortality ranges from 5 to 7%.17 In
Indonesia if pneumococcal vaccine (PCV) has not been given at the age of 2-5 years, PCV10 is
given 2 times 2 months apart, PCV13 is given 1 time.16 So, we also suggest giving the
pneumococcal vaccines at age in this case.
From his growth evaluation, this patient has malnutrition with severely underweight and
severe malnutrition marasmic type at transition phase. Malnutrition is defined as an imbalance
between nutrient requirement and intake, resulting in cumulative deficits of energy, protein, or
micronutrients that may negatively affect growth, development, and other relevant outcomes.
Based on its etiology, malnutrition is either illness related (one or more diseases or injuries
directly result in nutrient imbalance) or caused by environmental/behavioral factors associated
with decreased nutrient intake and/or delivery. Primary acute malnutrition in children is the result
of inadequate food supply caused by socioeconomic and environmental factors. Responsible
factors include household food insecurity, poverty, poor nutrition of pregnant women, intrauterine
growth restriction, low birth weight, poor breastfeeding and inadequate complementary feeding,
frequent infectious illnesses, poor quality of water and hygiene.18
Children with severe malnutrition require a slow, steady increase of calories for catch-
up growth to prevent refeeding syndrome. Nutritional management in this patient following the
pediatric nutrition care, with target calories according to Pedoman Pencegahan dan Tatalaksana
Gizi Buruk Pada Balita. This patient is given isocaloric formula milk with total calories diet 800
kcal/day (100 kcal/KgBW/day) and increased gradually until 200 kcal/KgBW/day.19 The nutrition
intake was given through enteral route due to shortness of breath. Further monitoring of
increasing body weight should be done regularly. For a long-term developmental status in this
patient, we also planned for early identification if there any sign and symptoms of developmental
deficits that can cause by nutritional disorder by screening this patient developmental status using
KPSP and Denver II regularly every 3 months.
Nowadays, given the improvement in coagulation concentrates, the life expectancy of
individuals with hemophilia appears to be equal to that of individuals without hemophilia in
developed countries. A retrospective study by Mansouritorghabeh et al (2018) showed that 6,5%
of hemophilia B patient die in 1 year. The youngest patient was a 20-year-old man, and the oldest
patient was a 76-year-old man; the mean age is 33.1 years. The causes of death include 2
(33.33%) cases of CNS bleeding, 2 (33.33%) cases of liver cirrhosis, 1 (16.66%) case of
uncontrolled bleeding postsurgery, and a case of severe nose bleeding (16,6%) (LoE 3B).20

Longitudinal case – Local Board Evaluation, December 2022 11

XII. REFERENCES
1. Zimmerman B, Valentino LA. Hemophilia: In review. Pediatr Rev. 2013;34(7):289–95.
2. Iorio A, Stonebraker JS, Chambost H, Makris M, Coffin D, Herr C, et al. Establishing the
prevalence and prevalence at birth of hemophilia in males a meta-analytic approach using
national registries. Ann Intern Med. 2019;171(8):540–6.
3. Srivastava A, Santagostino E, Dougall A, Kitchen S, Sutherland M, Pipe SW, et al. WFH
guidelines for the management of hemophilia, 3rd edition. Haemophilia. 2020;26(S6):1–
158.
4. Miller CH. The clinical genetics of hemophilia B (factor IX deficiency). Appl Clin Genet.
2021;14:445–54.
5. Blanchette VS, Key NS, Ljung LR, Manco-Johnson MJ, van den Berg HM, Srivastava A.
Definitions in hemophilia: communication from the SSC of the ISTH. J Thromb Haemost.
2014;12(11):1935–9.
6. Delgado-Flores CJ, García-Gomero D, Salvador-Salvador S, Montes-Alvis J, Herrera-Cunti
C, Taype-Rondan A. Effects of replacement therapies with clotting factors in patients with
hemophilia: a systematic review and meta-analysis. PLoS One. 2022;17:1–18.
7. Kearney S, Sharathkumar A, Rodriguez V, Chitlur M, Valentino L, Boggio L, et al. Neonatal
circumcision in severe haemophilia: a survey of paediatric haematologists at United States
Hemophilia Treatment Centers. Haemophilia. 2015;21:52–7.
8. Kulkarni R, Presley RJ, Lusher JM, Shapiro AD, Gill JC, Manco-Johnson M, et al.
Complications of haemophilia in babies (first two years of life): a report from the Centers for
Disease Control and Prevention Universal Data Collection System. Haemophilia. 2016;1–
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9. Bawazir OA, Alharbi I. Circumcision in hemophilia: a multicenter experience. J Pediatr
Hematol Oncol. 2021;43:E33–6.
10. McAllister DA, Liu L, Shi T, Chu Y, Reed C, Burrows J, et al. Global, regional, and national
estimates of pneumonia morbidity and mortality in children younger than 5 years between
2000 and 2015: a systematic analysis. Lancet Glob Heal. 2019;7:e47–57.
11. Nurhayati DH, Setyoningrum RA, Utariani A, Dharmawati I. Risk factors for mortality in
children with Hospital-Acquired Pneumonia in Dr. Soetomo General Hospital Surabaya. J
Respirasi. 2021;7(2):46–52.
12. Shahid ASMS Bin, Alam T, Shahrin L, Shahunja KM, Faruk MT, Ackhter MM, et al. Risk
factors and outcomes of hospital acquired pneumonia in young bangladeshi children. Life.
2021;11(1030):1–9.
13. Zar HJ, Cotton MF. Nosocomial pneumonia in pediatric patients: practical problems and
rational solutions. Pediatr Drugs. 2002;4(2):73–83.
14. Rambaud-Althaus C, Althaus F, Genton B, D’Acremont V. Clinical features for diagnosis of
pneumonia in children younger than 5 years: a systematic review and meta-analysis.
Lancet Infect Dis. 2015;15(4):439–50.
15. Powers JM, Sandoval C, O’Brien S, Lorin MI, Armsby C. Approach to the child with anemia.
UpToDate. 2022;
16. Soedjatmiko S, Sitaresmi MN, Hadinegoro SRS, Kartasasmita CB, Moedjito I, Rusmil K, et
al. Jadwal imunisasi anak umur 0 – 18 tahun rekomendasi Ikatan Dokter Anak Indonesia
tahun 2020. Sari Pediatr. 2020;22(4):252.
17. Berical AC, Harris D, Dela Cruz CS, Possick JD. Pneumococcal vaccination strategies: an
update and perspective. Ann Am Thorac Soc. 2016;13(6):933–44.
18. Dipasquale V, Cucinotta U, Romano C. Severe acute malnutrition in children:
pathophysiology, clinical effects and treatment. Nutrients. 2020;12(2413):1–9.
19. Izwardy D, Prawitasari T, Hutahuruk A, Roshita A, Mursita A, Widiodardi A, et al. Pedoman
pencegahan dan tatalaksana gizi buruk pada balita. Kementerian Kesehatan Republik
Indonesia. 2020. 51–65 hal.
20. Mansouritorghabeh H, Rahimi H, Mohades ST, Behboudi M. Causes of death among 379
patients with hemophilia: a developing country’s report. Clin Appl Thromb. 2018;24(4):612–
7.

Longitudinal case – Local Board Evaluation, December 2022 12

XIII. JOURNAL FOR EVIDENCE BASED PRACTICE
1. Iorio A, Stonebraker JS, Chambost H, Makris M, Coffin D, Herr C, et al. Establishing the
prevalence and prevalence at birth of hemophilia in males a meta-analytic approach using
national registries. Ann Intern Med. 2019;171(8):540–6. [Ann Intern Med. 2019. Level of
Evidence 3A]
2. Delgado-Flores CJ, García-Gomero D, Salvador-Salvador S, Montes-Alvis J, Herrera-
Cunti C, Taype-Rondan A. Effects of replacement therapies with clotting factors in
patients with hemophilia: a systematic review and meta-analysis. PLoS One. 2022;17:1–
18. [PLoS One. 2022. Level of Evidence 1A]
3. Shahid ASMS Bin, Alam T, Shahrin L, Shahunja KM, Faruk MT, Ackhter MM, et al. Risk
factors and outcomes of hospital acquired pneumonia in young bangladeshi children. Life.
2021;11(1030):1–9. [Life. 2021. Level of Evidence 3B]
4. Rambaud-Althaus C, Althaus F, Genton B, D’Acremont V. Clinical features for diagnosis
of pneumonia in children younger than 5 years: a systematic review and meta-analysis.
Lancet Infect Dis. 2015;15(4):439–50. [Lancet Infect Dis. 2015. Level of Evidence 2A]
5. Mansouritorghabeh H, Rahimi H, Mohades ST, Behboudi M. Causes of death among 379
patients with hemophilia: a developing country’s report. Clin Appl Thromb.
2018;24(4):612–7. [Clin Appl Thromb. 2018. Level of Evidence 3B]

XIV. ABBREVATION
AHF : Anti Hemophilia Factor
ALT : Alanine Transaminase
ANC : Absoslute Neutrophil Count
APTT : Activated Partial Thromboplastin Clotting Time.
AST : Aspartate Transaminase
BCG : Bacille Calmette-Guérin
BW : Bodyweight
CBC : Complete Blood Count
CFCs : Clotting factor concentrates
CNS : Central Nervous System
COVID-19 : Coronavirus Disease of 2019
CRP : C-Reactive Protein
DTwP : Diphtheria and tetanus toxoids and whole-cell pertussis
GCS : Glasgow Coma Scale
HAP : Hospital Acquired Pneumonia
Hb : Hemoglobin
Hep B : Hepatitis B
HiB : Haemophilus influenzae type b
HIV : Human Immunodeficiency Virus
IV : Intravenous
LDH : Lactate Dehydrogenase
LoE : Level of Evidence
MCH : Mean Corpuscular Hemoglobin
MCHC : Mean Corpuscular Hemoglobin
MCV : Mean Corpuscular Volume
MR : Measles-rubella
PCCs : Prothrombin Complex Concentrates
PICU : Pediatric Intensive Care Unit
PRC : Packed Red Cell
PT : Prothrombin time
RBC : Red Blood Cell
RBG : Random Blood Glucose
RDA : Recommended Dietary Allowance
RDW : Red Cell Distribution Width
SD : Standard Deviation
WHO : World Health Organization

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