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β THALASSEMIA MAYORCase report
Amalia Khairunisa Hsb (090100006)
Albert (090100212)
Pembimbingdr. Hj. Rita Evalina, Sp.A (K)
1
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Thalassemia
a heterogeneous group of inheritedconditions characterized by defects in the
synthesis of one or more of the globinchains that form the haemoglobin tetramer
disorders of Hb synthesis
Worldwide ----- 3%carry β thalassemiagenes 15 millions
have clinical features
β thalassemia ---common insouthern Europe, India,
Africa
α thalasemia----common in Southeast
Asia
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P T O P H Y S I O L O G Y
Selective
survival of HbF-
containing Cell
22 Hbf
Precipitati
on
Hemolysis
Excess
Destructio
n of red
blood cell
precursor
sSplenomegaly
(pooling,plasma volume
expansion)
Ineffective
erythropoiesis
Anemia
High oxygen
affinity of red
celisTissue hypoxia
Erytropoietin
Marrowexpansion
TransfusionIncreased
iron
absorption
Iron
loading
Endocrine deficiencies
Cirrhosis Cardiac failure Death
Bone deformity
increased metabolic
rate Wasting Goul Folate
deficiency
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USUAL
GENOTYPES
-GENE
NUMBER
CLINICAL
FEATURES
HEMOGLOBINELECTROPHORESIS
BIRTH > 6 MO
/ 4 NORMA
L NORMAL NORMAL
- / 3 SILENTCARRIE
R
0 – 3% HbBart’s
NORMAL
-- / or
- / - 2
- THAL
TRAIT
2 – 10% Hb
Bart’s NORMAL
-- / - 1 Hb H
DISEASE
15 – 30% HbBart’s
Hb HPRESENT
-- / -- 0 FETALHYDRO
PS
> 75% HbBart,s
-
4
Classification
α-thalassemia β-thalassemia β0 β+
• Homozygousor compoundheterozygous
(0 0)• total lack of
Chainproduction
• total failure toproduce Hb A
• Homozygous(++) someproductions of
Hb A.
• Heterozygosity - Thal trait
- Thal minor
• Homozygosity - Thal major
transfusion dependent
• Thalassemia Intermedia
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ClinicalManifestations
Failure to thrive
Anemia
Jaundice, gallstones
Abnormal facies, prominence of malareminences, exposure of upper central teeth
Growth retardation, delayed puberty
Leg ulcers
Skin bronzing
LaboratoryDiagnostics
Anemia : hypochromic,microcytic
Reticulocytosis
Hb electrophoresis: Hb F and A2 increased
Blood film: variation in red cell size and shape,pale (hypochromic) red cells, target
cells,basophillic stippling,nucleated red cells
Chromatography: HPLC
Bone marrow: megaloblastic (due to folatedepletion) ,erythroid
hyperplasia
DNA analysis
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Complications
1. Chronic anemia in undertransfused or in untranfused thalasemia intermedia patients
2. Chronic transfusion with resultant hemosiderosis and hemochromatosis
3. Hyperplastic marrow,extramedullary hematopoiesis
4. Increased iron absorption and iron overload
- Fibrosis/cirrhosis of the liver liver failure
- Endocrine disturbances : growth retardation , pituitary failure with impaired
gonadotropins, hypothyroid, delayed puberty
- Skin hyperpigmentation
- Cardiac hemochromatosis cardiac failure5. Hypersplenism: plasma volume expansion, shortened red cell life, leukopenia
,thrombocytopenia
6. Osteoporosis
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Treatment
Transfusion to maintain thepre-transfusion haemoglobin
level above 9 - 10,5 g/dL
Keep post transfusionHb not higher than 14 – 15
g/dL
Give ABO,Rh(D) compatible blood
Leucoreduced PRC or washed red cells
Keep record of red cell antibodies,transfusionreaction
Chelation Therapy Used: 1.Desferrioxamine
(Desferal) iv,sc2.Deferiprone :oral
Small dose of vit C may enhance
the efficacy of iron chelation
PrognosisThe prognosis depends
on the type and severity
of thalassemia.
The prognosis of patients with
thalassemia major is highly dependent
on the patient's adherence to long-
term treatment programs, namely thehypertransfusion program and life-
long iron chelation.
Treatment & Prognosis
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CASE REPORT • Medical Record
• Name : AFJ
• Age : 10 years old
• Sex : Male
• Date of Admission : December, 6
th
2013• Address : Pasar baru’s village of general hospital street
• Main Complaint (Alloanamnesis)
• Pale (+)
• History :
• Pale was happened since 5 days before the patient came to thehospital.History of fever was found in the past 1 week ago. The characteristicof fever was recurrent, subfebris, and decreased with antipiretic drug. Feverwas not found when the patient came to the hospital
• History of defecating and urinating was found normally.
• History of cough was not found.
• History of spontan bleeding was not found.• History of diarrhea was not found. History of vomiting was not found.
• History of illness was not found. History of family illness was not found.
• History of occupation was a student. This patient was Hematology-Oncolgy’s patient with Thalasemia β Mayor diagnosed and got routine bloodtransfusion
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Physical Examination
Generalized status
Body weight : 20 Kg BW/BL : 68,9%
Body length : 125 cm BW/Age : 80%
BL/Age : 97,6% Presens status
Sensorium : compos mentis
Blood Pressure : 90/60 mmHg
Heart Rate : 128 bpm
Temperature : 36, 7 oC
Respiratory rate : 28 bpm Anemic (+/+), Icteric (+), Edema (-), Dyspnea (-), Cyanosis (-).
Localized status
Head
Eye : Light reflex (+/+), isochoric pupil, Icteric sclera (+/+),
Paleness of inferior Palpebral conjunctiva (+/+)Ear/Mouth/Nose : normal
Neck : Lymph node enlargement (-), muchal rigidity (-)
Thorax : Symmetrical fusiformis. Epigastrial retraction (-).
HR : 128 bpm, reguler, murmur (-)
RR : 28 bpm, regular, crackles (-/-)
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• Abdomen : Soepel. Peristaltic (+) normal. Liver was
palpabled, 3 cm under arcus costae dextra.
Spleen : S V - VI
• Extremities : Pulse 128 bpm, regular, adequate pressure and
• volume, warm acral, CRT < 3”, paleness of plantar andpalmar (+/+)
• Urogenital : Male, normal in appearance
Differential Diagnosis
Thalasemia β Mayor
Working Diagnosis
Thalasemia β Mayor
Management
• IVFD D 5% NaCl 0,45 % 10 gtt/’ mikro
• R/ Blood Transfusion 60 cc• Necessity of PRC (Hb target : 10 g%)
• PRC → 4 x BW x ΔHb
• → 4 x 20 kg x (10 – 3,9 g%)
• → 488 cc (500 cc)
• Transfusion capability with Hb < 5 = 3 cc/ kgBW → 60 cc / transfusion
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Complete Blood Count (September, 03rd 2013)
Examination Unit Result Normal
Hemoglobin (HGB) g% 3.2 11.7 – 15.5
Eritrosit (RBC) 106/ mm3 1.34 4.20 - 4.87
Leukosit (WBC) 103/ mm3 5.20 4.5 – 11.0
Hematokrit % 11.50 38 – 44
Trombosit (PLT) 103/ mm3 243 150–
450
MCV Fl 85.80 85 – 95
MCH Pg 23.90 28 – 32
MCHC g% 27.80 33 - 35
RDW % 24.50 11.6 – 14.8
MPV fL 10.90 7.0 – 10.2
PCT % 0.27
PDW fL 14.4
Diftel Count
Neutrofil % 53.60 37 – 80
Limfosit % 33.80 20 – 40
Monosit % 11.20 2 – 8
Eosinofil % 0.20 1 – 6
Basofil % 1.20 0–
1
Neutrofil Absolut 103/µL 2.79 2.7 – 6.5
Limfosit Absolut 103/µL 1.76 1.5 – 3.7
Monosit Absolut 103/µL 0.58 0.2 – 0.4
Eosinofil Absolut 103/µL 0.01 0 – 0.10
Basofil Absolut 103/µL 0.06 0 – 0.1
Morfology
- Erythrocyte : Hypochromic Microcytic, tear drops (+) pencil cell (+)- Leucocyte : Normal- Thrombocyte : Normal
Kimia klinik (September, 03rd 2013)
Ginjal
Ureum
Kreatinin
mg/ dL
mg/ dL
9.10
0.25
< 50
0.5 – 0.9
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December, 07th 2013 (1nd Day)
S Pale (+)
O Sensorium: Compos Mentis, T: 36.8 oCHead Eye : Light reflex (+/+), isochoric
pupil, Icteric sclera (+/+), Paleness ofinferior Palpebral conjunctiva (+/+).Ear/Mouth/Nose : Normal.Neck : Lymph node enlargement (-),muchal rigidity (-)Thorax: Symmetrical fusiformis. Epigastrialretraction (-). HR : 94 bpm, reguler, murmur
(-). RR : 24 bpm, regular, crackles (-/-)Abdomen: Soepel. Peristaltic (+) normal.Liver was palpabled, 3 cm under arcuscostae dextra. Spleen : S V - VIExtremities : Pulse 94 bpm, regular,adequate pressure and volume, warmacral, CRT < 3”, paleness of plantar andpalmar (+/+)
Urogenital : Male, normal in appearance
A Thalasemia β Mayor
P -IVFD D5% Nacl 0,45%10 gtt/’ micro
-PRC transfusion 60 cc (I)
December, 08th 2013 (2nd Day)
S Pale (+)
O Sensorium: Compos Mentis, T: 36.8 oCHead Eye : Light reflex (+/+), isochoricpupil, Icteric sclera (+/+), Paleness ofinferior Palpebral conjunctiva (+/+).Ear/Mouth/Nose : Normal.Neck : Lymph node enlargement (-),muchal rigidity (-)Thorax: Symmetrical fusiformis. Epigastrialretraction (-). HR : 94 bpm, reguler, murmur(-). RR : 24 bpm, regular, crackles (-/-)Abdomen: Soepel. Peristaltic (+) normal.
Liver was palpabled, 3 cm under arcuscostae dextra. Spleen : S V - VIExtremities : Pulse 94 bpm, regular,adequate pressure and volume, warmacral, CRT < 3”, paleness of plantar andpalmar (+/+)Urogenital : Male, normal in appearance
A Thalasemia β Mayor
P -IVFD D5% Nacl 0,45%10 gtt/’ micro
-PRC transfusion 60 cc (II)
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Complete Blood Count (September, 07th 2013)
Examination Unit Result Normal
Hemoglobin (HGB) g% 6.60 11.7 – 15.5
Eritrosit (RBC) 106/ mm3 2.50 4.20 - 4.87
Leukosit (WBC) 103/ mm3 4.43 4.5 – 11.0
Hematokrit % 21.20 38 – 44
Trombosit (PLT) 103/ mm3 201 150 – 450
MCV Fl 84.80 85 – 95
MCH Pg 26.40 28 – 32
MCHC g% 31.10 33 - 35
RDW % 16.30 11.6 – 14.8
Diftel Count
Neutrofil % 68.00 37 – 80
Limfosit % 26.40 20 – 40
Monosit % 4.70 2 – 8
Eosinofil % 0.90 1 – 6
Basofil % 0.200 0 – 1 Neutrofil Absolut 103/µL 3.01 2.7 – 6.5
Limfosit Absolut 103/µL 1.16 1.5 – 3.7
Monosit Absolut 103/µL 0.21 0.2 – 0.4
Eosinofil Absolut 103/µL 0.04 0 – 0.10
Basofil Absolut 103/µL 0.01 0 – 0.1
Morfology
- Erythrocyte : normochrom normocytic
- Leucocyte : Normal
Kimia klinik (September, 07th 2013)
Liver Function
Total Bilirubin mg/dL 8.19 < 1
Direct Bilirubin mg/dL 3.83 0 – 0.2
Alkali Phospatase (ALP) U/L 150 < 157
AST/SGOT U/L 82 < 32
ALT/SGPT U/L 91 < 31
Elektrolit
Calsium (Ca)
Phospor
Magnesium (Mg)
mg/dL
mEq/L
mEq/L
8.5
4.7
2.39
9.2 – 11.2
3.4 – 6.2
1.3 – 1.8
Imunoserologi
FSH ng/mL 3.36 Follicular phase :
3.5 – 12.5
LH μg/L 0.72 Follicular phase :
2.4 – 12.6
Hepatitis
HBsAg Negatif Negatif
Tiroid
T3 Total ng?mL 1.60 0.8 – 2
T4 Total μg/dL 9.45 5 – 14
TSH μIU/mL 2.260 0.27 – 4.2
Hepatitis A Profile
Anti HAV IgM Negatif Negatif
Hepatitis C
Anti HCV Negatif Negatif
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December, 09th 2013 (3nd Day)
S Pale (+) Decreased, Fever
O Sensorium: Compos Mentis, T: 36.8 oC
Head Eye : Light reflex (+/+), isochoric pupil,
Icteric sclera (+/+), Paleness of inferior
Palpebral conjunctiva (+/+).
Ear/Mouth/Nose : Normal.Neck : Lymph node enlargement (-), muchal
rigidity (-)
Thorax: Symmetrical fusiformis. Epigastrial
retraction (-). HR : 94 bpm, reguler, murmur (-).
RR : 24 bpm, regular, crackles (-/-)
Abdomen: Soepel. Peristaltic (+) normal. Liver
was palpabled, 3 cm under arcus costae dextra.
Spleen : S V - VI
Extremities : Pulse 94 bpm, regular, adequate
pressure and volume, warm acral, CRT < 3”,
paleness of plantar and palmar (+/+)
Urogenital : Male, normal in appearance
A Thalasemia β Mayor
P -IVFD D5% Nacl 0,45%
10 gtt/’ micro
-PRC transfusion 60 cc (III)
R/ -Culture Blood and urine
- Ceftazidine injection 1 gr/12
hours/IV
December, 10th 2013 (4nd Day)
S Pale (+) Decreased, Fever
O Sensorium: Compos Mentis, T: 36.8 oC
Head Eye : Light reflex (+/+), isochoric pupil,
Icteric sclera (+/+), Paleness of inferior
Palpebral conjunctiva (+/+).
Ear/Mouth/Nose : Normal.Neck : Lymph node enlargement (-), muchal
rigidity (-)
Thorax: Symmetrical fusiformis. Epigastrial
retraction (-). HR : 94 bpm, reguler, murmur (-).
RR : 24 bpm, regular, crackles (-/-)
Abdomen: Soepel. Peristaltic (+) normal. Liver
was palpabled, 3 cm under arcus costae dextra.Spleen : S V - VI
Extremities : Pulse 94 bpm, regular, adequate
pressure and volume, warm acral, CRT < 3”,
paleness of plantar and palmar (+/+)
Urogenital : Male, normal in appearance
A Thalasemia β Mayor
P -IVFD D5% Nacl 0,45% 10 gtt/’micro
-Ceftazidine injection 1 gr/12
hours/IV
-Paracetamol 3 x 250 mg
-Exjade 250 mg 1-1-1
-As folat 1x1
-Vit C 1x1
-Vit E 1x1
-PRC transfusion 100 cc (IV)
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Complete Blood Count (September, 10th 2013)
Examination Unit Result Normal
Hemoglobin (HGB) g% 10.50 11.7 – 15.5
Eritrosit (RBC) 106/ mm3 3.80 4.20 - 4.87
Leukosit (WBC) 103
/ mm3
3.61 4.5 – 11.0
Hematokrit % 31.50 38 – 44
Trombosit (PLT) 103/ mm3 222 150 – 450
MCV Fl 82.90 85 – 95
MCH Pg 27.60 28 – 32
MCHC g% 33.30 33 - 35
RDW % 14.90 11.6 – 14.8
Diftel Count
Neutrofil % 52.50 37 – 80
Limfosit % 38.00 20 – 40
Monosit % 7.80 2 – 8
Eosinofil % 1.40 1 – 6
Basofil % 0.300 0 – 1
Neutrofil Absolut 103/µL 1.90 2.7 – 6.5
Limfosit Absolut 103/µL 1.37 1.5 – 3.7
Monosit Absolut 103/µL 0.28 0.2 – 0.4
Eosinofil Absolut 103/µL 0.05 0 – 0.10
Basofil Absolut 103/µL 0.01 0 – 0.1
Faal Hemostasis Ferritin ng/mL 4431.00 15 - 3000
Bone Age Result
Bone age was appropriate for the 14 years old girl
Normal bone modelling
Average girlEstradiol pg/mL 52.1 Follicular phase :
12.5 - 166
Cortisol μg/dL 19.6 6.2 – 19.4
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September, 10th 2013 (8th Day)
S Pale (-), icteric sclera (+/+)
O Sensorium: Compos Mentis, T: 37 oC, BW: 24 kg
Head Eye : Light reflex (+/+), isochoric pupil, Icteric sclera (+/+), Paleness of inferior Palpebral conjunctiva (-/-). Ear/ Nose :
normal. Mouth: Lip mucous pale (+). Neck : Lymph node enlargement (-), muchal rigidity (-)
Thorax:Symmetrical fusiformis. Epigastrial retraction (-). HR : 102 bpm, reguler, murmur (-). RR : 26 bpm, regular, crackles(-/-)Abdomen: Soepel. Peristaltic (+) normal. Liver was palpabled, 4 cm under arcus costae dextra. Spleen : S III - IV
Extremities : Pulse 102 bpm, regular, adequate pressure and volume, warm acral, CRT < 3”, paleness of plantar and palmar
(+/+)
Urogenital : Female, normal in appearance
A Thalasemia β Mayor
P - IVFD D5% Nacl 0,45% 10 gtt/’ micro - Vit C 1 x 1
- Folic Acid 1 x 1 tab - Vit E 1 x 1
- Usual diet 1580 kcal + 48 gr of protein
Endocrinology
Modul
S : never get menstruate, hair airmpit and hair genital was not found.
O : sensorium : compos mentis T : 36.8 oC
Thorax : SF, retraction (-), HR : 102 bpm, reg, murmur (-). RR : 26 bpm, regular, crackles (-/-)
Puberty status : Tanner Stage A1M2P1
A : delayed puberty + short stature + thalasemia β mayor
P : waiting for bone age result
Hematology
modul
- IVFD Desferol 1000 mg IV
(dose : 50 mg/kgBW/day→ 24 kg x 50 mg = 1200 mg)
Available : 500 mg/vial
Therapy for 30
days
- Desferol 50 vial, 1x2 vial
- Vit C 1x1, 30 tab
- Vit E 1x1, 30 tab- Folic acid 1x1, 30 tab
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DiscussionThe clinical manifestations of beta
thalasemia include
In this patient
• anemia
• Jaundice
• failure to thrive
• Hepatosplenomegaly
• abnormal facies
• fractures due to marrow
expansion and abnormal bone
structure, generalized
osteoporosis
• growth retardation,
delayed puberty, primary
amenorrhea in female, and otherendocrine disturbance secondary
to anemia and iron overload.
• the skin is pallor that
resuts from the anemia (Hb =3,2 mg/dl) , and
jaundice from hyperbilirubinemia.(total
bilirubin = 8,19 mg/dl, bilirubin direct = 3,83
mg/dl).
• hepatomegaly and splenomegaly.Hepatomegaly may be related to significant
extramedullary hematopoiesis or this patient who
have already receive routine blood transfusions may
have hepatomegaly or chronic hepatitis due to iron
overload.
Splenomegaly typically is observed as part of the
extramedullary hematopoiesis or as a hypertrophicresponse related to the extravascular hemolysis.
• delayed puberty ( Tanner A1M2P1)
and primary amenorrhea also short stature that
may results from endocrine disturbance as a result
of iron overload complications in routine transfused
patients. (hypogonadism (35-55%)).
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• ---TERIMA KASIH ---
Therapy of beta thalasemia include In this patient
• Transfusion to maintain the pre-transfusion haemoglobin level
above 9 - 10,5 g/dL
• Chelation Therapy
Used: 1.Desferrioxamine
(Desferal) iv,sc
2.Deferiprone :oral • Small dose of vit C may enhance
the efficacy of iron chelation
• oxygen ½-1 L/minute• IVFD D5% Nacl 0,45% 10 gtt/i micro
• folic acid 1x1 tab
• vit c 1x1
• vit E 1x1
• PRC transfusionthe PRC transfusion is given 3 times because the
hemoglobin need to be maintained until above 9,5 mg/dl,
when the patient came the hb was 3,2 and after three times
tranfusion, the Hb level is 10,5 and already approaches the
goals of therapy
• desferol 1000 mg iviron chelator therapy desferol to prevent iron overload ( this
patient already have endocrine complications of iron
overload such as hypogonadism, short stature, primaryamenorhea)
• after patients discharged, the patients is given
therapy for 30 days desferol 50 vial 1x2 vial/day and
vit C 1x1, 30 tablets.