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1 1

2 15

3 33

89

1

1

16

30-4018-24

3

Hb Barts Hydrops Fetalis, Homozygous -thalassemia -thalassemia/HbE

2

(1)

-thalassemia1,

-thalassemia Hb E

/

Hbtyping

HbA2

HbF

(starchgelelectrophoresis)(2-5)

Hb A2

(micro-column chromatography)(6-10)

HbF

(alkalidenaturationtest)(11) starchgelelectrophoresis

hemolysate

(cellulose acetate electro-

phoresis)(12)starchgelcelluloseacetate

electrophoresis

(alkali buffer)

HbA

HbFHbA2

HbFHbA2

1

A2A,EA,EFA,EABarts,

CSA2ABartsH

1

-globin

2

3HbA(2 2

)

96, Hb A2 (

2 2) 2.5

(4)HbF( 2 2)

1(13,14)

HbF

HbAHbF

Hb A

2

HbA2

Hb A

A2A

HbA2HbF

..2540

(liquid chromatography)

(highpressureliquidchromatography

1 cellulose acetate

: HPLC)(15-20) (low pressure

liquid chromatography : LPLC)(21,22)

..2550

(capillaryelectrophoresis)(23-25)

(cationexchangecolumnchromatography)

(sphericalsilicagel)

(carboxyl)

stationary phase

3

(capillary electrophoresis)

(sample injector)

(elute)

(mobilephase)

(ionic strength)

stationary phase

ionic strength

2ionicstrength

ionicstrength

retention time

(RT)

(spectrophotometer

detector)

RT

2

(

peak)

capillary electrophoresis

(10,000-30,000volts)

(silicacapillary)

25-100

(alkali

bufferpH9.4)

(electro

osmotic flow)

415

electrophoregramchromatogram

HPLC LPLC

HbA

electrophoregram

1

15electrophoregram

HbAHbA2

HbAHbA2

electrophoregram

2

Hb E Hb E

HPLCHbE

HbA2( 2A) CEHbA

2

HbE

2 ( 2B) LPLCHbA

2

HbE2

HbA2HbE

Hb E (

2C)

4

HbA2,HbEHbF

HPLCLPLC

cationexchangecolumnchromatography

chromatogram

CE

electrophoregramchromatogram

HPLCLPLC

starchgel

celluloseacetateelectrophoresis

HbA2HbE

HbE

HPLCLPLC

HPLCLPLC

HbA2

HbECE

HPLCLPLC

2 Chromatogram Hb E HPLC (A), CE (B) LPLC (C)

5

HbEHbA2

HbE(24)

1. A2A

1

-thalassemia -thalassemia

1.1HbA2

(Hb A2 4)

OFDCIP

MCV80fL,MCH

27pgNormal or non-clinically

significant thalassemia

-thalassemia2 -thalassemia

(26,27) 1.2 Hb A

2

(HbA24)

OFMCV

80fLMCH27pg

Normal Hb typing, not rule out -thalassemia

-thalassemia1,

-thalassemia2homozygous -thalassemia2

(Hb )

(26-29) 1.3HbA

2

4-8(1)

OFMCV

80fL,MCH27pg

-thalassemia trait with or without -thalassemia -thalassemia1

-thalassemia2 -thalassemia

-thalassemia

(30,31)

-thalassemia

0-thalassemia

-thalassemia1

MCV80fL/

MCH27pgOFpositive

DCIPnegativeHb10

g/dLHct30(

)

(5x1012cells/L)(26,27)

A2A

HbA2

2. EA2

2.1EAHbE

25 -thalassemia1

(32,33)

-thalassemia 2 (34)

EAHbE25

Hb E trait

-thalassemia

(homozygous -thalassemia 1 Hb Barts

hydropsfetalis)

-thalassemia

HbHdiseaseEABartsdisease

2.2EAHbE

25 HbE

-thalassemia1Hb E trait

with or without -thalassemia(34)

-thalassemia -thalassemia

3. EEhomozygousHbEHb F

Hb F

HbF

5HbE

80(35)homozygous

HbEHbF

10

6

EE/ EF

2

EEhomozygousHbE

Hb 10 g/dL MCV

MCH(35)

EE -thalassemia

(35)

EEHbE

80HbF

5homozygous Hb E with or

without -thalassemia EF -thalassemia

9

4. CS A2AHbConstantSpring(CS)

HbPakse2

-globin

31

142HbCS

(glutamine; Glu) Hb Pakse

(tyrosine; Tyr)

HPLC LPLC(36)

HbCSHbCS

Hb Pakse(37)

suspected Hb Constant Spring

5. CS A2A Barts homozygous

HbCSHbPaksesuspected

homozygous Hb Constant Spring

Hb H

HbBarts

-globin(38)

6. A2A H A

2A Barts H

-thalassemiaHbH(4)

HbBarts(4) -globin

-globin -globin

4HbH

( 4)HbBarts(

4)HbH

HbH

HbBarts -globin

-globin

-thalassemia

A2A -globin

-globin

HbHHbBarts

HbHHbBarts

HbtypingA2AHA

2ABartsH

HbHdisease( -thalassemia1/

-thalassemia2o-thalassemia/

+-thalassemia)

Hb A2

7. CS A2A H CS A

2A Barts H

HbH-CSdisease( -thalassemia1/HbCS

o-thalassemia/ Hb CS) Hb H

Hb H 6

Hb H

HbCS(36,39-44)

HbCS

HbH67

HbH

HbHHbH

peak HbH

HbH

HbH

inclusionbodies(45,46)

7

Hbtyping

8. A2F

1

Hb F

1

1

homozygous o-thalassemia with or without -thalassemia

-thalassemia

HbA

-globin -globin

HbF

HbA2

9. EF -thalassemia

HbEo-thalassemia/HbE

homozygouso-thalassemia

(47)

Hb typing EF

EE

Hb F

20-60(48)

HbEHbF

10. A2FA, EFA

A2F

A2FA1

3

-thalassemia

-thalassemia1 -thalassemia2(49)

Hb F

1

1HbF

-globin -globin(HbSwitching)

1

Hb F

Hb F

-thalassemia

hereditary

persistence of fetal hemoglobin (HPFH)(49-52) -globin -globin

Hb F

stress erythropoiesis

(53) HbF

stresserythropoiesis

10

HbF

-thalassemia

Hb F

suspected o-thalassemia/

+-thalassemia or

+-thalassemia/

+-thalassemia

with or without -thalassemiaEFA

+-thalassemia/ Hb E with or with-

out -thalassemia+-thalassemia(HbE)

o-thalassemia

A2FAEFA o-thalassemia/

o-thalassemia

o-thalassemia/ Hb E

8

3 Chromatogram LPLC Hb Hope

Hb F Hb Hope

4 Electerphoregram CE Hb Tak (A) Hb Q-Thailand (B)

Hb F Hb Tak Hb Q-Thailand

HbF

HbFcell

acidelution

HbFHbHope(54) HbF

LPLCHbTak(55)

HbQ-Thailand(56)HbF

CE

3 4

9

11. EA Barts, EE Barts, EFA Barts, EF Barts, CS EA Barts, CS EE Barts, CS EFA Barts CS EF Barts -thalassemia -thalassemiaHbE(57-60) -globin -globin -globin

E-globin -globin

Hb H Hb Barts -thalassemia

HbEHbAHbEHbE20 -thalassemia -thalassemia(61, 62)

(63,64) 1. 2. 3. 4. 1(65,66)

1 ( 65 66)

10

11

1. Wasi P, Pootrakul S, Pootrakul P,

PravatmuangP,WinichagoonP,FucharoenS.

ThalassemiainThailand.AnnNYAcadSci1980;

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2.WoodWG.Hemoglobin analysis. In:

WeatherallDJ.(ed.)TheThalassemia.NewYork:

ChurchillLivingstone,1983;31-53.

3. Wasi P. Laboratory methods for

thalassemiaandabnormalhemoglobin.Bangkok:

TheDivisionofHematology,DepartmentofMedicine

SirirajHospital,MahidolUniversity,1985:14-23.

4. .

. ,

,

(). 88.

:

2531:80-114.

5..

.

,

().

. 3.

:2546:51-63.

6.InternationalCommitteeforStandardization

inHematology.Recommendations for selected

methods for quantitation of haemoglobin A2.

BrJHaematol1978;38:573-8.

7.EfremovDC,HuismanTHJ,Bowman

K, Wrightsone NR. Microchromatography of

hemoglobin:arapidmethodfordeterminationof

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64.

8. AbrahamEC,ReeseA, StallingsM,

HuismanTHJ.Separationofhumanhemoglobin

byDEAEcellulosechromatographyusingglycine

KCN-NaCldevelopers.Hemoglobin1977;1:27-44.

9 . , ,

, , ,

. 2 -52-.

2535;4:32-6.

10.,,

.Simpledetermination

ofhaemoglobinA2fordetectionofheterozygous

-thalassemia.

1977;10:17-24.

11.InternationalCommitteeforStandardization

inHematology.Recommendationforfetalhemoglobin

referencepreparationandfetalhemoglobin

determination by alkali denaturation method.

BrJHaematol1979;42:133-6.

12.BainBJ.Hemoglobinopathydiagnosis

2nded.Oxford:BlackwellPublishing,2005.

13.Maniatis T,Molecular genetics and

biosynthesis of hemoglobin. In: Bunn HF and

ForgetBG.Hemoglobin:molecular,geneticand

clinical aspects. Philadelphia :W.B. Saunders

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14.StamatoyannopoulosG,GrosveldF.

Hemoglobinswitching.InStamatoyannopoulosG,

MajerusPW,PerlmutterRM,VarmusH(eds.)The

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15.VariantHemoglobinTestingSystem

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16. Primus Variant System (Primus

Corporation.,USA.).Instructionmanual.

17. .

.

,2537.

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Hemoglobin typing by high performance liquid

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OncoungW,etal.PrenatalandPostnataldiagnoses

of thalassemias and hemoglobinopathies by

12

HPLC.ClinChem1998;44:740-8.

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Analysisoffetalbloodusingcapillaryelectrophoresis

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, ,

,,.

OF test KKU-DCIP-Clear.

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581-92.

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andSEA-typealpha-thalassemia.SoutheastAsian

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35.FucharoenG,TrithipsombatJ,Sirithawee

13

S, Yamsri S, Changtrakul Y, Sanchaisuriya K,

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alpha-thalassemia.AnnHematol2006;85:450-4.

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TAT or Ter-Tyr)] in Thai patientswith EABarts

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PootrakulP,PiankijagumA,WasiP.Differences

between two types of HbH disease, -tha-

lassemia1/ -thalassemia2 and -thalassemia1/

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MolecularandclinicalfeaturesofHbHdisease

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46.SabathDE,CrossST,MamiyaLY.An

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Molecular,hematologicalandclinicalaspectsof

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PublicHealth1997;28(suppl3):110-4.

56. Sanchaisuriya K, Chunpanich S,

Fucharoen S, Fucharoen G, Sanchaisuriya P,

ChangtrakulY.AssociationofHbQ-Thailandwith

homozygousHbEandheterozygousHbConstant

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Na-NakornS,SuingdumrongA.HaemoglobinE

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58. Fucharoen S, Winichagoon P,

ThonglairoamV,PiankijagumA,WasiP.EFBarts

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FucharoenS,WasiP.ThemolecularbasisofAE

Bartsdisease.Hemoglobin1989;13:117-24.

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N, Sanchaisuriya K. Thalassemia intermedia

associatedwiththeHbConstantSpringEEBarts

diseaseinpregnancy:amolecularandhematological

analysis.BloodCellsMolDis2007;39(2):195-8.

61. Siriratmanawong N, Fucharoen G,

Sanchaisuriya K, Ratanasiri T, Fucharoen S.

SimultaneousPCRdetectionofbeta-thalassemia

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diagnosisofcomplexthalassemiasyndrome.Clin

Biochem2001;34:377-80.

62.BoonsaS,SanchaisuriyaK,Fucharoen

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diversemolecularbasisandhematologicalfeatures

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Thailand.ActaHaematol2004;111:149-54.

63.,.

.

2551; 20:

165-77.

64..

.

2552;21:212-25.

65.

.

. 1 :

,2552.

66. .

.:

,2552:1-209.

15

HbSsicklecellanemia

..1949

HbC,HbD,

HbE,HbGHbJ

HbConstantSpring(

ConstantSpring),HbQueens

(),HbBeijing(),HbTak

() HbQ-Thailand ()

850 (1, 2)

-globin,

-globin, -globin -globin

-globin

-globin

-globin

-globin gene

Hb F (2 2

)

-globin

-globin -globin

HbFHbA(2 2

)

-globin

HbA2 (

2 2)

(2-3)

- -globin(3)

2

50

-globin

-globingene2

-globin

25

-globin

-globin 4 2-

1-globin gene2

2-globin 1-globin

2-globin

1-globin

-, -, -

-globinchainvariant

(4)

1.

HbS

2.

Hb E,

16

HbC,HbO-Arab,HbD-Punjab

3.

chronic hemolytic

anemia, high oxygen affinity

polycytemiaHbTaklowoxygenaffinity

cyanosisHbM

4.

polymorphism

HbPyrgos,HbHope,Hb

Hekinan

(thalassemichemoglobinopathy)(5)

HbE,HbMalay,HbConstantSpring,

HbPakse,HbQ-ThailandHbQuangSze

HbHope,HbKorle-Bu,HbPyrgosHb

Hekinan

30

1(6)

Hemoglobin Mutation Base Change Laboratory Findings

HbAnantharaj(HbJWuming) llLys-Gln AAG-CAG NormalHbSiam(HbOttawa) 15Gly-Arg GGT-CGT NormalHbHekinan 27Glu-Asp GAG-GAT NormalHbQueens(HbOgi) 34Leu-Arg CTG-CGG NormalHbThailand 56Lys-Thr AAG-ACG NormalHbJBuda 61Lys-Asn AAG-AAC NormalHbQThailand 74Asp-His GAC-CAC -thalassemiaHbSuanDok 109Leu-Arg CTG-CGG -thalassemiaHbQuongSze 125Leu-Pro CTG-CCG -thalassemiaHbPakNumPo 131/132insertion + T -thalassemiaHbConstantSpring C.t./elongation TAA-CAA -thalassemiaHbPakse C.t./elongation TAA-TAT -thalassemiaHb C 6Glu-Lys GAG-AAG TargetcellsHb S 6Glu-Val GAG-GTG SicklecellanemiaHbG-Makassar 6Glu-Ala GAG-GCG Normal

1 (

6)

17

2HbEHbCS

1. Hb E

Hb E

Hb E codon

26exon1 -globingene

G A

GAG AAG codon

26(G-A)splicingexon1

codon25splicing

Hemoglobin Mutation Base Change Laboratory Findings

HbSiriraj 7Glu-Lys GAG-AAG Normal

Hb Malay 19Asn-Ser AAC-AGC -thalassemiaHbGCoushatta 22Glu-Ala GAA-GCA NormalHbE 26Glu-Lys GAG-AAG -thalassemia

HbJBangkok 56Gly-Asp GGC-GAC NormalHbKorle-Bu 73Asp-Asn GAT-AAT Normal

Hb Pyrgos 83Gly-Asp GGC-GAC NormalHbNewYork 113Val-Glu GTG-GAG NormalHbDPunjab 121Glu-Gln GAA-CAA NormalHbKhonKaen 123-125(-8bp) -ACCCCACC -thalassemia

HbDhonburi 126Val-Gly GTG-GGG -thalassemiaHbCook 132Lys-Thr AAA-ACA UnstableHb Hope 136Gly-Asp GGT-GAT NormalHbKodairaII 146His-Gln CAC-CAG Inc.O

2affinity/

polycytemia

HbTak C.t./elongation +AC Inc.O2affinity/

polycytemia

HbLeporeWashington-Boston 87- 116fusion Deletion -thalassemia

HbLepore-Hollandia 22- 50fusion Deletion -thalassemia

70

+-thalassemia

codon26mRNA

HbE

26glutamic

acidlysine( 1)

Hb E

+-thalassemiaheterozygote

homozygoteHbE

-thalassemia

(7,8)

18

2. Hb Constant Spring (Hb CS)

HbCS

-thalassemia

termination codon 2-globin

(TAA-CAA) -globin

172

2-globin (TAA-TAT)

Hb Pakse

HbPakseHbCS

Hb typing 2

(9, 10)

DNAPolymorphism

HbCS

1 Intron (IVS I IVS II) RNA splicing E

E normal splicing (A) E abnormal splicing

codon 25 E-globin (B) * codon 26,

GAG-->AAG

HbPakse

HbCS(11,12)

-thalassemia1HbH,EABarts

EFBarts

(13) non deletional

-thalassemia2

Hbtyping

Hb typing

HPLC,LPLCCE

HbCSHbPakse

HbCS

Hb Pakse

2

19

1.

Hb S HPLC LPLC

1.1 -chain variant (Hb D-Punjab,

Hb Tak, Hb Korle-Bu Hb G-Makassar)

Hb S,

Hb D-Punjab, Hb Tak, Hb Korle-Bu Hb

G-Makassar -chain variant

HbS[ 6 (A3)

Glu-Val], Hb D-Punjab [ 121(GH4)Glu-Gln],

HbTak[ 147Term-thr],HbKorle-Bu[ 73(E17)

Asp-Asn] HbG-Makassar [ 6(A3)Glu-Ala]

LPLC

S-windowA2window 3

HPLCretentiontime

2 Chromatogram Hb CS (A) Hb Pakse (B) HPLC

S-windowD-window

4abnormal

peak1peak -chainvariant

35-45

sicklingtestfresh

specimenHbS

Hb S

HbD-PunjabmutationsPCR-RFLP

MstII(14)EcoRI(15)

multiplexPCR

(16)

HbTakHbD-Punjab

HbSHbG-Makassar

(17,18)

20

3 Chromatogram Hb S (A), Hb D-Punjab (B), Hb Tak (C) Hb G-Makassar (D)

LPLC

21

4 Chromatogram Hb S (A), Hb D-Punjab (B), Hb Tak (C) Hb G-Makassar (D)

HPLC

22

5 Chromatogram Hb Korle-Bu Hb E HPLC (A), LPLC (B),

CE (C)

6 Chromatogram Hb Siam

HPLC

Hb Korle-Bu -chain variant

Hb E,

-thalassemia2 -thalassemia1

Hb A2 Hb E

HPLCLPLC

CEHbKorle-Bu,HbEHbA2

( 5)

PCR(19,20)

1.2 -chain variant (Hb Siam, Hb Queens Hb Q-Thailand)

Hb Siam [ 15(A13)Gly-Arg], Hb Queens

[ 34(B15)Leu-Arg]HbQ-Thailand[ 74(EF3)

Asp-His]HbSiamHbQueens

1-globingeneHbvariant

1520 peak

Hb S, HbD-Punjab, Hb Tak, HbG-Makassar

HbKorle-Bu 6

-chainvariant

1.1

(21-23)

23

HbQ-Thailand -thalassemia

1-globincodon74Asp-Asn

-thalassemia2

4.2 kb deletion

Hb Q-Thailand

-thalassemia24.2kbdeletion

-thalassemia1HbH

QHdisease 7

codon74

-thalassemia24.2kbdeletion

multiplexPCR

(24) HbQ-Thailand

-globinchain

HbE

HbQ-ThailandHbE

HbA( A2

A2),HbE( A

2 E2),HbQ-Thailand( Q

2 A2)

HbQ-ThailandE( Q2

E2) 8

7 Chromatogram Hb Q-Thailand HPLC (A) Hb QH disease

LPLC (B)

8 Chromatogram Hb Q-Thailand Hb Q-Thailand E HPLC (A)

LPLC (B)

24

9 Chromatogram Hb C HPLC (A) LPLC (B)

2. -chain variant (Hb C, Hb Pyrgos,

Hb Hope Hb J-Bangkok)

-globin

HbA

HbC[ 6(A3)Glu-Lys],HbPyrgos[ 83(EF7)Gly-Asp], HbJ-Bangkok[ 56(D7)Gly-Asp]HbHope

[ 136(H14)Gly-Asp]

HbC

Hb typing

alkaline electrophoresis

HbCHbE

HbEHbC

Hb E

DCIP

(25,26)

HPLC,LPLCCEHbC

HbEHbtyping

9HbC

homozygote Hb S

HbKorle-Bu microcytic anemia

Hb crystal formation Hb C

(27)

HbPyrgos,HbHopeHbJ

Bangkok nonpathological -chain variant

HPLC LPLC

( 10-12)HbPyrgosHbHope

HbAHbE

HbJ-Bangkokpeak

Hb A

HPLCpeak

Hb A LPLC

(28-31)

25

10 Chromatogram Hb Pygos/Hb E HPLC (A) LPLC (B)

11 Chromatogram Hb Hope HPLC (A) LPLC (B)

12 Chromatogram Hb J-Bangkok/HbE HPLC (A) LPLC (B)

26

13 Chromatogram Hb Hekinan Hb E (A) Chromatogram

Hb Hekinan Hb E -thalassemia 1 (B) HPLC

3. -chain variant (Hb Hekinan

Hb Beijing)

HbHekinan[ 27(B8)Glu-Asp]HbBeijing [ 16(A14)Lys-Asn]

-chainvariant

HbHekinannonpathological -variant

1-globin

2-globin Hb Hekinan

HbAHPLC/LPLC

HbHekinanHbE

(32-34)HbHekinanHbE

-thalassemia

HbHekinanHbA

HbE 13AHbHekinan

HbE -thalassemia

-globin chain

abnormalpeak2peakHbHekinan

( HK2

A2)HbEHekinan( HK

2E2)

HbAHbE

13B

1-globin(32)

HbBeijing

HbE -thalassemia1

thalassemiaintermedia

(35)abnormalpeak3

HbBeijing( BJ2

A2),HbEBeijing( BJ

2E2)

HbE 14

HbBeijingHbE -thalassemia

abnormalpeak2HbBeijing

HbE 15

27

14 Hb Beijing, Hb EBeijing Hb E Hb Beijing

Hb E -thalassemia 1 alkaline cellulose electrophoresis (A)

HPLC (B)

15 Chromatogram Hb Beijing Hb E HPLC

28

Hb E Hb CS

(rare abnormal Hb)

Abnormal Hb (suspected abnormal Hb) abnormalHb

(36)

29

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genetics.Springer-Verlag,NewYork,1986.

2.HuismanTHJ.Globingeneserver:

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ClinHaematol1993;6:1-30.

4.WajcmanH, PrehuC, Bardakdjian-

Michau J, PromeD, Riou J, Godart C, et al.

Abnormal hemoglobins: laboratory methods.

Hemoglobin2001;25:169-81.

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8. , .

(Workshop) Thalassemia:

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2541.

:

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inThaipatientswithEABartsdiseaseandHbH

disease.Hemoglobin2002;26:227-35.

10. Fucharoen S, Sanchaisuriya K,

FucharoenG,PanyasaiS,DevenishR, LuyL.

InteractionofhemoglobinEandseveralformsof

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11.LaigM,PapeM,HundrieserJ,FlatzG,SanguansermsriT,DasBM,DekaR,YongvanitP,

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springgeneinSoutheastAsianpopulations.Hum

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12.SingsananS,FucharoenG,Savongsy

O, Sanchaisuriya K, Fucharoen S. Molecular

characterizationandoriginsofHbConstantSpring

andHbPakseinSoutheastAsianpopulations.

AnnHematol2007;86:665-9.

13.BoonsaS,SanchaisuriyaK,FucharoenG,

WiangnonS,JetsrisuparbA,FucharoenS.Thediverse molecularbasisandhematologicfeaturesof

HbHandAEBartsdiseasesinnortheastThailand.

ActaHaematol2004;111:149-54.

14. SteinbergMH.DNAdiagnosis for thedetectionofsicklehemoglobinopathies.AmJhematol 1993;43:110-5.

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characterizationofHbD-Punjab[ 121(GH4)Glu-Gln] inThailand.Hemoglobin2002;26:261-9.

16. Sanchaisuriya K, Chunpanich S,

FucharoenG,FucharoenS.Multiplexallelespecific

PCRassayfordifferentialdiagnosisofHbS,Hb

D-PunjabandHbTak.ClinChimActa2004;343:

129-34.

17. Sangkitporn S, Rerkamnuaychoke

B,SangkitpornS,MitrakulC,SutivigitY.HbG

Makassar(beta6:Glu-Ala)inThaiFamily.

JMedAssocThai2002;85:577-82.

18.ViprakasitV,WiriyasateinkulA,

SattayasevanaB,MilesKL,LaosombatV.

Hb G-Makassar [beta6(A3)Glu-->Ala; codon 6

(GAG-->GCG)]: molecular characterization,

clinical, and hematological effects.Hemoglobin

2002;26(3):245-53.

19.ChangtrakunY,FucharoenS,

Ayukarn K, Siriratmanawong N, Fucharoen G,

SanchaisuriyaK.Compoundheterozygosity for

30

HbKorle-Bu( 73;Asp-Asn)andHbE( 26;Glu-Lys) witha3.7kbdeletional ( -thalassemia inThai

patients.AnnHematol2002;81:389-93.

20.SiriratmanawongN,ChansriW,

Singsanan S, Fucharoen G, Fucharoen S.

Complex interactionofHbE [ 26(B8)Glu-Lys],

HbKorle-Bu[ 73(E17)Asp-Asn]andadeletional

-thalassemia1inpregnancy.Hemoglobin2009;

33:1-8.

2 1 . T u r b p a i b o o n C , S v a s t i S ,

SawangareetakulP,WinichagoonP,SrisomsapC,

SiritanaratkulN,FucharoenS,WilairatP,SvastiJ.

HbSiam[alpha15(A13)Gly-->Arg(alpha1)(GGT-->CGT)] isatypicalalphachainhemoglobinopathywithout

analpha-thalassemiceffect.Hemoglobin2002;

26(1):77-81.

22. Yodsowan B, Svast J, Srisomsap

C, Winichagoon P, Fucharoen S. Hb Siam

[alpha15(A13)Gly-->Arg]isaGGT-->CGTmutation

in the alpha1-globin gene. Hemoglobin 2000;

24(1):71-5.

23.FucharoenS,SingsananS,HamaA,

FucharoenG,SanchaisuriyaK.Rapidmolecular

characterization of Hb Queens and Hb Siam:

twovariantseasilymisidentifiedassickleHb.Clin

Biochem2007;40:137-40.

24. Sanchaisuriya K, Chunpanich S,

Fucharoen S, Fucharoen G, Sanchaisuriya P,

ChangtrakulY.AssociationofHbQ-Thailandwith

homozygousHbEandheterozygousHbConstant

Springinpregnancy.EurJHaematol2005;74:

221-7.

25.SiriboonW,SrisomsapC,WinichagoonP,Fucharoen S, Svasti J. Identification of Hb C

[ 6(A3)Glu-Lys]inaThaimale.Hemoglobin1993;

17:419-25.

26.SanchaisuriyaK,FucharoenG,Sae-ungN, Siriratmanawong N, Surapot S, Fucharoen S.

Molecular characterization of hemoglobin C in

Thailand.AmJHematol2001;67:189-93.

27.NagelRL,LinMJ,WitkowskaE,FabryME,

BestakM,HirschE.Compoundheterozygosityfor

hemoglobinsCandKorle-Bu:moderatemicrocytic

anemia and acceleration of crystal formation.

Blood1993;82:1907-12.

28.FucharoenS,AyukarnK,SanchaisuriyaK, FucharoenG. A typical hemoglobinH disease

inaThaipatientresultingfromacombinationof

-thalassemia1andhemoglobinConstantSpring

with hemoglobin J Bangkok heterozygosity.

EurJHaematol2001;66:312-6.

29 . Chunpan ichS, FucharoenS,

Sanchaisuriya K, Fucharoen G, Kam-itsara K.

Molecularandhematologicalcharacterizationof

hemoglobinHope/hemoglobinEandhemoglobin

Hope/ -thalassemia2inThaipat ients.

LabHematol2004;10:215-20.

30 . F ucha r oen S , S i n g sanan S ,

Sanchaisuriya K, Fucharoen G.Molecular and

haematological characterization of compound

Hb E/Hb Pyrgos and Hb E/Hb J Bangkok in

Thaipatients.ClinLabHaematol2005;27:184-9.

3 1 . S u r a T , B u s a b a r a t a n a M ,

YoungcharoenS,WisedpanichkijR,ViprakasitV,

Trachoo O. Haemoglobin Hope in a northern

Thai family: first identification of homozygous

haemoglobinHopeassociatedwithhaemoglobin

Hdisease.EurJHaematol2007;79(3):251-4.

32.FucharoenS,ChangtrakunY,

RatanasiriT,FucharoenG,SanchaisuriyaK.Complex

interaction of Hb Hekinan [ 27(B8) Glu-Asp]

and Hb E [ 26(B8) Glu-Lys] with a deletional

-thalassemia1inaThaifamily.EurJHaematol

2003;70:304-9.

3 3 . C h u np a n i c h S , Ay u k a r n K ,

Sanchaisuriya K, Fucharoen G, Fucharoen S.

Laboratorydiagnosisofacompoundheterozygosity

forHbHekinan[(27(B8)Glu-Asp]andadeletional

-thalassemia2inThailand.ClinLabHaematol

2004;26:355-8.

31

3 4 . N g iw s a r a L , S r i s oms ap C ,

WinichagoonP,FucharoenS,SvastiJ.Twocases

of compound heterozygosity for Hb Hekinan

[alpha27(B8)Glu-->Asp(alpha1)]andalpha-thalassemia inThailand.Hemoglobin2004;28(2):145-50.

35 . FucharoenS, Chunpan ichS,

Sanchaisuriya K, Fucharoen G, Kunyanone N.

Thalassemia intermediaassociatedwithcomplex

interaction of Hb Beijing [ 16(A14)Lys-Asn]

and Hb E [ 26(B8)Glu-Lys] with a deletional

-thalassemia 1 in a Thai family. Hemoglobin

2005;29:77-88.

36. , .

.

2553;22:103-17.

32

33

3

Heterozygote :1(1)()

(traitcarrier)

Homozygote :()

Compound heterozygote :()

-thalassemia

-thalassemia

Double heterozygote : heterozygote2 - -thalassemia

Complex condition : homozygotecompoundheterozygote - -thalassemia

thalassemia

60(1)

Hbtyping

(2)

1. (2-6)

-Hbtyping:A2A,HbA

2

4

-Hb10g/dL

-MCV80fL

-OFnegative

-DCIPnegative

-bloodsmear

( 1)

1 Blood smear

34

1

Normal or non-clinically significant thalassemia

Age22years Sexmale.......

Historyofbloodtransfusion..none

Thalassemiascreening

OF-test :negative

DCIP-test :negative

RBC parameters RBC=4.62x1012/L,Hb=15.1g/dL,Hct=43.3%,MCV=93.7fL,

MCH=32.7pg,MCHC=34.9g/dL,RDW-CV=13.0%

Hb-analysis.HPLC.

Hb-type:A2A..

HbA2=3.1.% HbE=-.%

HbF=0.7.%

OtherHb=-

Interpretation Normalornon-clinicallysignificantthalassemia*

Note

* -thalassemia2: 3.7, 4.2, CS, Pakse** -thalassemia1trait, -thalassemia2trait,homozygous -thalassemia2

***0-thalor

+-thal

35

2

Normal or non-clinically significant thalassemia

Age22years Sex...male....

Historyofbloodtransfusion..none

Thalassemiascreening

OF-test:negative

DCIP-test:negative

RBC parameters RBC=4.62x1012/L,Hb=15.1g/dL,Hct=43.3%,MCV=93.7fL,

MCH=32.7pg,MCHC=34.9g/dL,RDW-CV=13.0%

Hb-analysis.LPLC.

Hb-type:A2A..

HbA2=2.1.% HbE=-.%

HbF=