Transcript Practice in Thalassaemia Clinic in Children`s hospital

Thalassaemia in Children’s
Hospital
By: Khounthavy
INITIAL EVALUATION
Evaluating Anemia Patient
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Age, Height, Body weight
Lymphadenomegaly, Hepatosplenomegaly
Fatigue/Heart Sound
Tongue size ….
CBC (18P)
– WBC/Hb/Hct/PLT MCV MCH Reti(%)
– Absolute Reticulocyte Count (Reticulocyte Index)
• Iron Profile
– Serum Ferritin / Serum Iron / TIBC
• Peripheral Blood Smear (Morphology)
• Hemoglobin Typing ??
Nelson Pediatrics Table 447-1
Nelson Pediatrics Figure 447-2
• Response of Anemia
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Kidney -> EPO
EPO -> Bone Marrow
Bone marrow : Produces more RBCs
Reticulocyte : Young RBC (RBC nyang bor souk)
• Anemia with Low Reti
– Bone Marrow function not normal
– IDA, Vit B12 Def
• Anemia with High Reti
– Bone Marrow function intact
– Blood loss, Hemolysis
• Absolute Reticulocyte Count
– (% of Reti) X (Pt’s Hct / Normal Hct)
• Reticulocyte Index
– (Absolute Reticulocyte Count) / (Maturation Factors)
• Maturation Factors
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Hct>35%: 1.0
35%>Hct>25%: 1.5
25%>Hct>20%: 2.0
20%>Hct : 2.5
WWW.Medcalc.com
Hemoglobin typing
• Recommended after 1 year-old
• Electrophoesis or HPLC
– Children’s Hospital ; Electrophoesis
– Thai ; HPLC
Nelson Pediatrics
 
 






Normal
Hb A= 22 (97%)
HbA2= 22 (2.5%)
Hb F= 22 (0.5%)
-Thalassemia
4=HbH
4=HbBart’s
 
-Thalassemia
Increased HbA2
(4-6%)
2
1
2
1
Normal
2
Hb H disease
1
 thal 1 trait
CS
1
Hb H-CS disease
 thal 2 homozygote
2
 thal 2 trait
1
Hb Bart’s hydrops
fetalis
Alpha-Thalassaemia
• 1 deletion of 4 genes
– Silent
• 2 deletion of 4 genes
– Moderate type
• 3 deletion of 4 genes
– Hemoglobin H (β4)
– Tetramer of Beta Chain
• 4 deletion of 4 genes
– Hydrops fetalis; Hemoglobin bart (γ4)
– Tetramer of Gamma Chain
– Most severe (Fetal death)
• Non-deletional mutation in alpha gene
– Hemoglobin CS
Hydrops Fetalis
Beta-Thalassaemia
Variable Severity in
-Thalassemia Disorder
Hemoglobin E
• Substitution of glutamic acid by lysine at
codon 26 of Beta-globin gene
• Frequency ; 60% in Thai, Laos, Cambodia
-Thal/Hb E
-Thal 2/Hb E
Hb E
-Thal 2
-Thal
-Thal/Hb E
c- -Thal 2
Hb H Disease
-Thal 1/ -Thal
(-Thal 1)2
-Thal 1
Hb Bart’s Hydrops
,
Hb H Disease
- Hb CS
c
Hb AEBart s Disease
- Hb CS
c
Hb Constant
Spring
(Hb CS)
(Hb CS) 2
( -Thal)2
-Thal 1
-Thal 1/Hb E
Hb E
(Hb E) 2
(More than 60 genotypes
Southeast/East Asia (2005)
No
Country/
Region
Total
Population (m)
0-thal
(%)
+-thal -thal Hb E
(%)
(%)
(%)
Hb S
(%)
1
Australia
18.9
0.1
0
0.4
0.1
0
2
Cambodia
10.9
4
33.4
3.0
30
0
3
China, south
200
1.4*
9.6*
1.0
+
0
4
Hong Kong
6.8
5.0
14.5
3.0
0
0
5
Indonesia
207
+
7.7
4.0
1.9
0
6
Laos
5.3
2.0
34
2.0
27
0
7
Malaysia
22.7
1.8
3.1
1.7
5.5
+
8
Myanmar
45.1
0.4
32
2.2
25
0
9
Philippines
74.7
2.0
18.4
1.0
1.0
0
10
Singapore
3.9
3.5
12.1
3.0
+
0
12
Taiwan
21.5
4.0
5.1
2.0
0
0
13
Thailand
61.8
5.0
21
5.3
33
0
14
Vietnam
78.7
2.6
9.1
1.4
16.7
0
Grand Total
757.3
(B. Modell)
THALASSEMIA IN THAILAND
- Thalassemia
 - Thal 1
20 - 30 %  - Thal 2
Hb Constant Spring 1 - 8 %
( - thalassemia 2 like effect )
- Thalassemia
Hemoglobin E
3-9 %
10 - 53 %
Thalassaemia in MCH
(Mother and Child Hospital)
Hemoglobin E diseases : 58 (67%)
E/β: 32 (37%)
EA: 9 (10%)
AE-Bart diseases: 14 (16%)
E/E: 2 (2%)
Hemoglobin H diseases: 40 (47%)
Hb H: 16 (19%)
Hb H-CS: 10 (12%)
AE-Bart diseases: 14 (16%)
β Thalassaemia (β/ β) 2 (2%)
•Total 148 patients
•86 patients had done Hb
typing
Please ask or consult to
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Dr.
Dr.
Dr.
Dr.
Dr.
Sourideth
Bounhak (Eunsang LEE)
Khounthavy
Vasana
Phatana
MANAGEMENT
Consult
• If the Result is hard to interpret please
consult to these doctors
– Dr.
– Dr.
– Dr.
– Dr.
– Dr.
Sourideth
Bounhak (Eunsang LEE)
Khounthavy
Vasana
Phatana
Iron Deficiency Anemia
• Iron Tablet 4~6mg/kg/day
• 4 weeks later check CBC for recovery
• If recovered continue to more 8 weeks
• Iron Syrup for Infants in Lao
Thalassaemia
• New patient
– Height, Body weight
• Should compare with age
– History
• FHx, Transfusion Hx (from when, how many times,
where?, regular or irregular
• Hemoglobin typing result?
• Transfusion effect?
– Review of System
• Fatigue, Bone change, DOE, Skin color
– Physical Examination
• Heart sound, Lung sound, Abdominal Examination
Thalassaemia
• Determining Regular Transfusion
– Should determine carefully
• Patients are poor, Blood bank is poor
– Check patient’s record safely
• Check the records of Bwt, Ht.
– Is it increasing?
• Check the records of Blood tests
– Is the Hb dropping?
• Check the records of P/Ex
– Is the spleen getting bigger?
Transfusion
Global Guideline
Laos
High Transfusion
Low Transfusion
(Pretransfusion Hb > 10)
(Pretransfusion Hb > 7)
Start transfusion
Start transfusion
-Hb<7 two times or,
-Failure of Development or,
-Bone change or,
-Complications
-Hb<7 two times and,
-Failure of Development and,
-Bone change and,
-Complications
** Unless more than 2 reasons
Follow up patient
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Check Height Body weight
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Check complications
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How many times, Follow up interval
Check Ferritin Hx
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Especially the compare the size of spleen
Check Transfusion Hx
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Please compare it with the past
If transfused over 20 times should check
If checked more than 6~12 months should check again
Hb
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If on Regular transfusion
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Hb should be over 7
If Hb over 9  prolong the follow up interval 1 more week
If Hb under 7  reduce the follow up interval
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If Iron overload state, the transfusion effect decreases
If Hypersplenism state, the transfusion effect decreases
Check WBC, PLT
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If on L-one(Deferiprone)
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Check if Leukopenia (Neu<1,000)
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Neutrophil count = WBC X granulocyte(%)
If Postsplenectomy
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Check if Thrombocytosis (PLT>1,000,000)
Iron Overload
• If Transfusion over 20 times
– Should Check Ferritin
• L-one (Deferiprone)
Ferritin
Dose
Ferritin > 1,000
L-one 50mg/kg
Ferritin > 2,000
L-one 75mg/kg
Ferritin > 3,000
L-one + Desferal
– Nausea / Joint pain / Leukopenia
• Nausea – reduce dose
• Joint pain – stop for 1~2weeks with NSAID
• Leukopenia – stop for 2 weeks and follow up WBC
• Desferal (Deferroxamine)
– Allergic reaction / Slow Growth
– SC injection
Splenectomy
Indication
1)
The requirement of transfusion is more than 220 ml PRC/kg/year (if Hct of
PRC is 75%)
2) The pretansfusion Hb cannot be controlled over 7 even though 2~3 week inte
rval regular transfusion
3) The patient who has hypersplenism lives in a remote area where regular transf
usion access is impossible
4) Severe complication (Pancytopenia, Pain and Tenderness)
Splenectomy
• Preparation
– Work up
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CBC/Blood Chemi/Electro/PT.aPTT/BT.CT/RUA
CXR
Cardiac echo / Abd echo
HBV profile / HIV
– Pre-op
• Vaccination (Hib, Pneumo23, Meningo)
– 2 weeks before operation is recommended
• Transfusion
– Need only 1 or 2 times of transfusion before operation
– Target Hb>7 at operation day
Splenectomy
• Post-splenectomy
– Daily dressing > Antibiotics
– Ambulation
– Prophylaxis antibiotics
• Penicillin V 200,000 Unit 2 times a day
– Follow up 4 weeks after operation
HHA Support in Clinic
• Regular support to patients
– 2250 USD / 3 months
– Around 40 patients
– Budget executed by Ns KinKaeSoun (HY Byoun)
• Temporary support
– 1,000,000 kip / month
– Can be executed by Laotian Dr
– Consult to Ns KinKaeSoun
• Filter
– If having complication of Transfusion  support
2 pieces a time