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Thal CPG
Thal CPG
.. 2549
(Clinical practice guidelines for diagnosis and management of thalassemia syndromes)
*( 2/7 ..2548 )
(thalassemia syndromes)
(thalassemia) (hemoglobinopathy)
(hemolytic anemia) autosomal
(thalassemia
trait, carrier, heterozygote)
2 (genotypic diagnosis)
1
(phenotypic diagnosis) 2
( 1)
1. Barts hydrops fetalis homozygous alpha-thalassemia 1 genotype
-thal 1/-thal 1 - - /- -
()
1.
2. (complete blood count, CBC) (red cell indices)
(morphology) homozygous
-thalassemia, -thalassemia/Hb E Hb H disease (hypochromia)
3.
inclusion body Hb H
Baseline
Hb level
g/dl 14
13
12
11
10
9
8
7
6
5
4
3
2
1
normal
trait
0
E trait
thal2
HbH
AEBart HbH-CS
mild
thal1
trait moderate
severe
/E
0
0/0
1 (baseline Hb level)
(phenotypic diagnosis) (mild) (moderate)
(severe)
Alpha-thalassemia syndromes
Hb Barts
hydrops
Hb H disease
genotype
(- - / - -)
(- - / - )
CS
Hb H Constant
Spring (Hb HCS)
(- -/ )
Homozygous Hb
CS
(CS/CS)
-thal 1 trait
(- -/)
-thal 2 trait
(- /)
Homozygous thal
-thalassemia/Hb
E
Homozygous Hb
E (HbEE)
Hb E trait
-thalassemia
trait
Phenotype
Hb typing
(MCV
)
> 1 Hb H= 4-20%
Hb CS ~ 5%
Beta-thalassemia syndromes
genotype
( /0), (0/+)
0
(+/+)
(0/E)
(+/E)
(E/E)
(E/)
(0/) or
(+/)
Phenotype
Hb typing
Hb A2F; HbA
Hb EF or Hb EFA
(MCV )
(MCV
)
Hb EA (E=25-35%)
Hb E (E=80-100%)
Hb A2A (A2>3.5%)
Phenotype
Hb typing
Hb AE Barts
disease
genotype
(- -/- )
(E/)
Hb AE Barts CS
(- -/CS)
(E/)
Hb EF Barts
disease
(--/-) (E/E)
(--/-) (0/E
Hb AE Barts
Hb AE CS Barts
Hb EF Barts
(baseline Hb/Hct)
(most severe)
(severe)
2
()
Hb < 7 g/dL
(Hct < 20 %)
(Asymptomatic)
-thal/Hb E disease (
Hb > 7 9 g/dL
(Hct >20 27 %)
-thal/ -thal ()
-thal/ Hb E ()
Hb H disease ()
Hb 9 g/dl
(Hct 27 %)
(mild)
-thal/ -thal ()
(moderate)
-thal/ Hb E ,
Hb H disease ,
Hb A-E-Barts disease,
Homozygous Hb CS
Hb (low
normal)
Homozygous -thal2,
Homozygous Hb E
( 2)
(severe beta-thalassemia) baseline Hb 7.0 g/dl (Hct <20 %) -thal/
-thal -thal/Hb E disease
(stem cell transplantation)
(high transfusion) (iron chelation)
(low transfusion)
(moderately severe thalassemia) baseline Hb 7-9 g/dl (Hct 2027 %) -thal/ Hb E , -thal/ -thal Hb H disease
1.
- 5
-
-
folic acid
- > 1 1 (5 )
- < 1 1/2
(high transfusion)
2.
(PRC)
leukocyte-poor PRC) (leukocyte depleted/ filtered PRC)
(HIV antibody, HIV antigen, Hepatitis C, Hepatitis B, Syphilis)
cross-match
PRC 12-15 mL/kg 2
HCC syndrome ( 7.3)
minor blood groups minor group red cell antigens
(C, c, E, e, Lea, Leb, Mia) PRC
5
2
3.1 (high transfusion)
homozygous beta-thalassemia Beta-thalassemia/Hb E
(suppression of erythropoiesis)
L-PRC 12-15 mL/kg
10 g/dL. L-PRC 2 4 12-15 mL/kg
(pre-transfusion Hb) 10 g/dL
10 g/dl 12-15
180-225 mL/kg ( 4)
high-transfusion
3.3
pretransfusion Hb < 5 g/dL
1. PRC 2 Hb 5 mL/kg
2. < 2 mL/kg / ( 2448 .)
3. PRC
4. BP, PR 30 PRC
febrile non-hemolytic transfusion reaction (FNHTR) Chlorpheniramine Paracetamol
1/2-1 . FNHTR vital signs
I.V. fluid NSS 5% D/NSS
(leukocyte
depleted PRC leukocyte filtered PRC)
4. (Iron chelation)
5.
hypersplenism
6 .
250 mL/kg/
hypersplenism
Pneumococcal vaccine 1
penicillin (250 ) 1 2 .5
6. (stem cell transplantation: SCT)
1.
2. HLA
HLA 1 4
1 10,000 1 100,000
3. 500,000 1,5000,000
HLA
75-92 (
)
10
7.
7.1
pneumococci
upper respiratory tract infection, diarrhea, pneumonia, gram negative septicemia
extramedullary erythropoisis
liver cirrhosis B C
elective surgery cholecystitis ascending
cholangitis
7.3 Hypertension
2 unit
hypertension, convulsion cerebral hemorrhage (HCC syndrome)
2 diuretic antihypertensive drugs
hypoxemia arterial
partial oxygen autopsy pulmonary
hypertension pulmonary hypertension thrombocytosis chronic
hypercoagulability aspirin
-thal/Hb E
11
1.
2.
(pre-natal
diagnosis) ( ?)
1.
autosomal recessive
2.
(in-vitro fertilization, IVF)
3. (artificial insemination)
(IVF) (embryo transfer) ovum
4.
3.
12
1.
2.
Hemoglobin analysis
3.
Blood group (ABO, Rh(D)) minor blood groups (C, c, E, e, Lea, Leb, Mia)
1. (Hb Hct)
. Hb typing
HbH
Thalassemia clinic
BMT/SCT
& Prenatal diagnosis (PND)
Comprehensive
Thalassemia center
BMT/SCT&PN
()
13
(Quality Control)
Hb H disease
(PND)
comprehensive thalassemia center
comprehensive thalassemia center
14
-thalassemia 1 5
3.
(dichlorophenol-indolphemol
(DCIP)
precipitation test) DCIP (unstable hemoglobin)
95
KKU-DCIP-Clear 100
1. (hemoglobin analysis) HbA2
-thalassemia HbA2 3.5
Hb E Hb CS
2. serum ferritin
3. PCR (polymerase chain reaction) -thalassemia 1
Hb, MCV *
Age
Birth (cord blood)
1 to 30 days
1 week
2 weeks
1 month
2 months
3 to 6 months
0.5 to 2 years
2 to 6 years
6 to 12 years
12 to 18 years
Female
Male
Adults
Female
Male
* From Nathan and Oski, 1993
Hb (g/dl)
Mean (-2 S.D.)
16.5 (13.5)
18.5 (14.5)
17.5 (13.5)
16.5 (12.5)
14.0 (10.0)
11.5 (9.0)
11.5 (9.5)
12.0 (10.5)
12.5 (11.5)
13.5 (11.5)
MCV (fl)
Mean (-2 S.D.)
108 (98)
108 (95)
107 (88)
105 (86)
104 (85)
96 (77)
91 (74)
78 (70)
81 (75)
86 (77)
14.0 (12.0)
14.5 (13.0)
90 (78)
88 (78)
14.0 (12.0)
15.5 (13.5)
90 (80)
90 (80)
15
1. Dumars K W, Boehem C, Eckman JR, et al. Practical guide to the diagnosis of thalassemia. Am J Med Genet.
1996;62:29-37
2. Expect Committee. Current Situation and Strategic Plan for Prevention and Control of Blood Disease in Thailand.
Academia Reports, Ministry of Public Health. 1989-1990; 5-43.
3. Anonymous. The laboratory diagnosis of haemoglobinopathies. Br J Haematol 1998;101:783-92
4. Cao A, Pintus L, leeca U, et al. Control of homozygous -thalassemia by carrier screening and antenatal diagnosis
in Sardinians. Clin Genet. 1984;26:12-22
5. Ghosh A, Woo JSK, Wan CW, Machenry C, Wong V, and Ma HK. Evaluation of a prenatal screening for beta
thalassemia carriers in a Chinese population based on the mean corpuscular in a Chinese population based on the
mean corpuscular volume(MCV). Prenatal Diagnosis 1985;5:59-65
6. , ,
2539;6(2):165-177
7. Rogers M, Plelan L, Bain B. Screening criteria for beta thalassemia trait in pregnant women. J Clin Pathol 1995; 48;
1054-6.
8. Sanguansermsri T, Phumyu N, Chomchuen S, and Steger HF. Screening for Alpha-Thalassemia 1 Heterozygotes in
Expecting Couples by Combination of a Simple Erythrocyte Osmotic Fragility Test and PCR-Based Method.
Community Genet 1999;2:26-29
9. , ,
OF Test KKU-DCIP-Clear
2542;(2):111-118
10. , , thalassemia
screening test Hb typing. 2542;9(1):49-51
11. Fucharoen S, Winichagoon P, Wisedpanuchkit R, et al. Prenatal and postnatal diagnosis of thalassemia and
hemoglobinopathies by HPLC. Clin Chem 1998;44(4):740-8
12. Kattamis C, Efremor G, and Pootrakul S. Effectiveness of one tube osmotic fragility screening in detecting thalassemia trait. J Med Genet. 1981;18:266-70
13. Kulapongs P, Sangunasermsri T, Mertz G, Tawarat S. Dichlorophenol indophenol(DCIP) precipitation test: a new
screening test of Hb E and H. Paediatr Soc Thailand.1976;15;1-7
14. , , , ,
2536; 5:131-7.
16
15. Guidelines for the control of haemoglobin disorders. The sixth annual meeting of the WHO Working Group on
Haemoglobinopathies held in Sardinia. Modell B ed. April 1989.
16. Management protocol for the treatment of thalassemia patients 1997 Editors. Antonio Cao, Vilma Gabutti, Renzo
Galanello, et al. WHO: Thalassemia International Federation. Nicosia, Cyprus.
17. 2532:256-64
18.
6
18-20 2536.
17
MCV + DCIP
DCIP positive
MCV > 80 fl
DCIP negative
MCV < 80 fl
Serum ferritin
<15 ng/ml
No history, signs
of iron def.
Hb > 10 g/dl
Iron def.
Normal range
Improve
Not improve
Iron def.
Hb A A2 (A2< 3.5%)
Hb A A2 (A2> 3.5%)
Positive
No significant
thalassemia
Alpha-thal 1 trait
Beta-thal trait
Hb E trait; homozygous Hb E
Hb CS trait; homozygous Hb CS
Hb H disease
Beta-thal/Hb E, ect.
Normal
18
2 OF DCIP test
Step I Screening test
OF + DCIP
DCIP positive
OF negative
DCIP negative
OF positive
1 month treatment of iron
Serum ferritin
<15 ng/ml
No history, signs
of iron def.
Recheck MCV
Hb > 10 g/dl
Iron def.
Normal range
Improve
Not improve
Iron def.
Hb A A2 (A2< 3.5%)
Hb A A2 (A2> 3.5%)
Negative
Positive
No significant
thalassemia
Alpha-thal 1 trait
Beta-thal trait
Hb E trait; homozygous Hb E
Hb CS trait; homozygous Hb CS
Hb H disease
Beta-thal/Hb E, ect.
Normal
*
1.
2.
3.
4.
5.
6.
19