12/6/2010

Dcht
hc

THIUMENG6PD
Glucose6phosphate
dehydrogenase
PGS.TS.NguynVitNhn

BnminhhasphnbtnhtrngthiumenG6PD
trntoncu
WHOWorkingGroup.Glucose6phosphatedehydrogenasedeficiency. Bull
WHO.198967:601 611.

Ditruyn

c
Dcht
hc

Loidttphbinhngth5(WHO)

iutraHngKng(1996)
Nam4.47%(n=223,696)
N0.27%(n=208,457)
LoKKetal:NeonatalscreeningforG6PDdeficiencyinHongKong.InLamSTS,Pang
CCD(eds):NeonatalandPerinatalScreening theAsianPerspective,CUHKpress,
1996,pp33 35.

iutraiLoan(1996)
Nam2.6%(112/n=4.277)
N1,3%(50/n=3.771)

DogenG6PDbtbin
Ditruynkiulnlinktvi
nhimscthgiitnhX.
Vtr:nhnhdiNSTX,vng2
bng8(Xq28)

DistributionofG6PDmutationsinTaiwan,HuangCSetal.AmJHematol51:19 25,
1996

PhnbcctbintrngenG6PD

G6PD gene:
Di18kb(18ngncpnucleotide)vi13onexon,exon
utinkhngmangm.
Enzymec2hoc4tiunvgingnhau,minvc
kchthc5kDa
Chuipolypeptidec515acidamin

Ditruyn

Hnnhncangi
bbnhthng,NST
khngmanggenbnh
vmbnhthng
nhngmangmtgen
bnh(XXc).

12/6/2010

Phnloi
(WHO)

Ditruyn

Chialm5nhm
1. Thiunghimtrng: (hottnh<10%)thiumutn
huytmn(khngchngcuhnhcu)
2. Thiunghimtrng: (hottnh<10%)thiumutn
huyttnpht
3. Thiunh: (hottnh1060%),chxyrathiumu
huyttnkhitipxcvicctcnhngyoxyha
4. Ccbindkhnggythiumen:khngbiuhin
trnlmsng
5. Giatnghottnhcamen:khngbiuhintrnlm
sng

Mcbnh

Ngilnhmanggen
bnh

SosnhbadngtbingythiumenG6PDph
binnht
PhnloicaT
chcYtThgii
(WHO)

G6PDatrunghi
G6PDAsahi(G6PDA)
(G6PDB)
NhmII

NhmIII

NhmII

Loitbin

A GGA vtr
376(A G)hoc202
CTvtr563
(G A)trnExon5, GT vtr1376
trnExon6lmacid
lmthayAsparagine lmacidaimivtr
aminvtr188l
Asparticacid vtr
459lArginine
Serine
acidamin126hoc
Leucine
Phenylalanine
ValineMethioninev
tr68

Qunthbnh
hng

,Hylp,Tyban
nha,rp,Dothi,
huducangi
Dothi(ngiKurd),

Huducangi
ChuPhi

ngNam

Tngbilirubinemu
thikssinh
Huyttnkhisdng
ccchtoxyha

Biuhinlm
sng

G6PD Canton
(G6PDA)

Biuhinlm
sng
Cnxyratngtvitriuchng:
o St,nhcu
o aubngvauthtlng
o Vngda,lchto,tiuhuytsctmux
x,gnen.
Cnthngxyrachtrongmtthigian
ngn
o Sau12ngy,nctiunhtdn,trrt
mt,thiumunng
o Cthcbinchngsuythncp,dt
vongnukhngctruynmukpthi.

Thiumuhuyttndo
o dothuc
o nhimtrng
o donutm
Vngdassinh
Thiumuhuyttn
mnkhngchngcu
hnhcu(Chronicnon
spherocytichaemolyticanaemia
(CNSHA))

Cch
Bnh
sinh

G6PDxctcbinNADP+ thnhdngkhNADPH trongcon

ngpentosephosphat.
G6PD:glucose6phosphatedehydrogenase
ATP:adenosinetriphosphate
ADP:adenosinediphosphate
NADP+:nicotinamideadeninedinucleotidephosphate[dngoxy
ha]NADPH:dngNADPbkh
GSSG:glutathione boxyhaGSH:glutathione bkh
Glucose6phosphatedehydrogenasedeficiency,trangweb:http://www.malariasite.com/malaria/g6pd.htm.

12/6/2010

Cctriuchngvxtnghimccbnhnhnthiumen
G6PDvbcnhuyttncp.

Tnthngmnghngcu
ThHeinz

Hngcu
khngth
tora
NADPHbng
cccon
ngkhc

Triuchng

Xtnghim

aulng

Cngthcmu

aubng

mhngculi

Vngda
Lchlnthongqua
Hemoglobinniu
Vngmt

Trnbnhnhnthiu
menG6PDvbhuyt
tncpkthps
thy:
Thiumunhhoc
nng
Giatng4n5ngy
saucnhuyttn.

Tiubnlammungoi
ThHeinz.
vi
Haptoglobin
Bgim
Chcnng gan
Tngbilirubin gintip
NghimphpCoombs

mtnh

TnhuytcpngithiumenG6PD

ThHeinztronghngcu
mungoivi

Snglc

KtQuSngLc

Testnhtnh:Fluorestcentspottest
Nguyntc:
Oxyhaglu6phosphatglu6phosphonate
NADP+ NADPH
Test(+):khnghinmhunhquangditiacctm

Cchngcubcn
(biteredcell)

D(chngthiu
G6PD)

I(chngtrunggian)
B(khngc
mu)

N(bnh
thng)

S(bnh
thng)

12/6/2010

Chnon

Chnon

Testnhlng:Mindchhunhquang

Phntchtbin:PCR

Myohunhquang
VictorD

HthngAutoDelfia

Huyttn
cp

utm(fava
bean)

Xyrado:
Nhimtrng
nutm(favabean)
Sdngccthucgyoxy
ha

BroadBean,FavaBean,FabaBean,FieldBean,BellBean,TicBean

Thucgyoxy
ha

Cnphilmgkhitrbthiumen
G6PD?
KhitrbthiumenG6PDcnnh:
Nhcnhn vinytvtnhtrngthiumen G6PDcatr.
.
Ccbmchoconbkhng csdng nhng thcn
hocdcphm khng csdng ngibthiumen
G6PDvnhng chtnycthiquasam.
Khngnntmuathucchotrmphihikincabc
s.
Khngsdng ccloidcphm, thcnhocnhng cht
gyoxyha.
Khngsdng longno(bng phin).
Cnhgicvimtsloithucnam,thucngyvccloi
ucchachtoxyha.

Nutuntheohngdntrsc
mtcucsnghontonbnhthng.

12/6/2010

Xincmnccbntheodi