C H U Y S N Bi: HOI NOHI KHOA HpC H U Y £ T H(?C • TRUYJN M A U T O A N Q U 6 C 2012
Adverse prognostic significance of KIT mutations in adult acute myeloid leukemia with inv(l6) and t(8;21): a Cancer and Leukemia Group B Study. J Clin Oncol 2006;24(24):3904-ll.
Slovak ML, Kopecky KJ, Cissllcth PA, et
al. Karyotypic analysis predicts outcome of prcremission and postremission therapy in adult acute myeloid leukemia: a Soutliwesi Oncology Group/Eastern Coopemjte Oncology Group Study. Blood 2000;96(l3):4075-83.
NGH|£N Cliu TiN SUAT CAC BAT THUttNG HUY^T SAC TO
01 N H O M NGiron MUIDNG H U Y I N K I M BOI T I N H HAA BlNH
Lirang Thj Nghiem, T r i n T h i H o n g H i , Dinmg Bi Tr^
DSng Thj Hk, Nguyen Thj Doyfa^
T6M TAT
Muc t i e u ; Xac djnh ty le thalassemia va cac bat thudng h u y ^ s k to cua nhom n g u ^ Mudng tCr 12-18 tuoi huyen Kim Boi tinh Hoa Binh.
Doi t u ^ g vd PhU'dng phdp; 1224 hpc sinh tai nSm trulcing FTTVI CLia n3m xa; Vinh Dong, Hdp Dong, Nam TliUdng, Hdp Kim, Kim Tien huyen Kim Boi tinh Hoa Binh. Tat ca deu dUdc lam tong phan h'ch te bao mau ngoai vl bSng may dem ttr dong, sii'c ben tham thau hong t a u (SBTTHC), nong dp va phan tich thanh phan Hb bSng HPLC.
Ket qua: Ty le bat thirdng Hb cao, chiem 20,12%, trong d o : ngUdI mang gen p- thalassemia (8,82%), p thalassemia the trung gian (0,25%), p thalassemia the nSng (0,16%), HbE (10,38%), E/ P-thal (0,25%), HbH (0,34%), HbD (0,16%).
t') Benh vien Nhl Trung t/ang Phan bifn khoa h p c ; T S . Le Xuan H a i
S U M M A R Y
Objective: Investigate ttie proportion c^
thalassemia and other hemoglobinopathies In 12-18 age pupils fnom Muong ethnic grtxjp located in Kin Boi, Hoa Binh province
Materials a n d methods: 1224 pupils of secondary school In five villages: Vinh Dong, Htfi Dong, Nam Thuong, Hop Kim, Kim Ten from Kin Boi district, Hoa Binh province. They were dieded full blood count by automated hemotology analyser, fragility osmotic and haemogtoWn a n a l y s i s b y H P L C .
Results: Ttie proportion of HemoglobiiopalWB is v e y high, 20,12%. (Wtiatessemia earner (8,74%) If tfialassemia mild (0,25), p thalassemia major (0,i6Kft HbE (10,38%), E/ P-thal (0,25%), HbH (0,34%),, HB (0,16%).
Y HQC VigT NAM T H A N G 8 - s 6 D A C BlgT/2012
. DiEkT V A N D E
Thalassemia la mpt trong s6 nhdng b?nh di ruyen pho bien that, chiem td 7% dan s6 the ridi. Nguoi mang gen hku nhir khSng c6 bieu li^n ^ ngoai thieu mdu nh?. The n$ng, phy hupc vao truyen mdu \k phdi dung thdi sdt lien yc. Neu khong dupe difiu trj dky du b?nh sS c6 ihi&a biin chung gay anh hudng Idn t6i cugc
•^T\% ngu6i b?nh, gia ^nh vd xd hpi [1] [2].
Viet Nam la nuac ndm trong khu v\rc c6 y 1§ mang gen thalassemia cao. Nhflng ighien cuu dupe tien hdnh trong hem 20 ndm
^ua cho thdy benh c6 d khdp cac tinh tir Bdc iin Nam, nhung cd tdn suAt cao ddc bi^t 6
;dc dan tpc it ngudi nhu Mudng, Thdi, Tdy, Niing...Dl hgn ch^ vi$c gia tdng so tr6 sinh ra bi benh the ndng, vdn d^ phdng bpnh la rat zhn thilt ddc biet d cdc tinh mien niii. Trong 46 viec phdt hien ngudi mang gen benh vd tu vdn di truyen Id quan trpng nhat, d$c bipt la d cdc vung cd ty le mdc benh cao. Vi v^y, chung toi thuc hien nghien cuu ndy vdi myc tieu: Nghien ciru tdn sudt tlialassemia vd htovt sdc td bdt thudng khdc cda nhom nguoi Uuang tit 12-18 tuoi a 5 xd thuoc huy^n Kim Boi'tinh Hoa Binh
II. 0 6 l TUPNG VA PHDONG PHAP NGHIEN COU
1. Doi tu-Qng nghien cihi: Id 1224 hpc sinh dan toe Mudng dang hpc tgi ndm trudng trung hoc ca sd cua nam xa: Vinh Ddng, Hpp D^ng, Nam Thuang, Hpp Kim, Kim Tiln thupc huyen Kim Boi tinh Hda Binh.
2. Phirong phap nghiSn cihi: mo td cdt 3. Cdc xet nghiem va tieu chuan ddnh gia:
3.1. Phiiu ddnh gid cho timg doi tw^ng
3.2. iSng phdn tfch ti bdo mdu ngofii vi: dya vdo cdc chi s6 HC nhu MCV, MCH, MCHC, RDW dl sa bO ddnh gid vl ddc diim huyit hpc ciia mOt s6 bdt thudng Hb. D^ng thdi idy chi s6 MCV< 78 fl ciing vdi SBTTHC de dp dyng sdng Ipc p-thal vd HbE.
3J. Sdv bin thSm thdu hdng chu vdi dung djch NaCl 0,35%: duang tinh khi dung dich HC v§n dye sau 3 phut
3.4. Plidn tich thdnh phhn Hb tren mdy HPLC - Variant
Thanh phdn Hb binh thudngi HbAl: 95- 97%
HbA2: 2 - 3,5%
HbF: 0.4-2%
Thdnh phdn Hb bdt thudng: (theo khuyin cdo cua mdy Variant)
HbA2 tdng khi >4%.
HbF tdng khi >3%.
Tieu chudn ddnh gid mot so the b$nh
•P Thalasemia:
* The ndng:
- Thiiu mau nang, phy thupc truyen mdu (theo phieu dieu tra).
Thanh phan Hb: HbF > 10% ho§c HbE/p-thal.
* Thi trung gian: thdnh phdn Hb: gidng thi ndng nhung khong phy thupc vdo truyen mdu.
* Thi nh? (thi di hap tu): HbA2 tdng.
•a Thalassemia: HbH: tren dipn di hemoglobin co HbH, HbAl thudng gidm.
•HbE: tren dipn di Hb co HbE.
•Ngodi ra ngudi mang cdc bat thudng Hb khdc diu cd cdc thanh phdn Hb bat thudng tuong ung. Vi dy : HbD , HbQ ...
H9
CHUYfeN Bi: Hpi NOHI KHOA HQC HUYET HQC • TRUYJN MAU TOAN QU6C 2012 III. Kit QuA NOHllN Cljru
Binh thuOng BSt thuftng TSng cSnq
n 979 245 1224
%
79,98 20,02 100 Nh$n xil:Tin su& b?nli Hb cao
ng 2. Cdc the b?nh g?lp tron Th£b«nh
3-thal th? nSnq B-thal the trunq qian B-thal the nhe HbE HbH HbD
Tonq conq
i nghien ciru n 2 3 107 127 4 2 245
Vc 0,16 0,25 8,74 10,38 0,34 0,16 20,2 Nhgnxit: Gdp nhieu loai bat thudng Hb, trong dd chu \cu la HbE va p-thal.
Bdng 3. Kit qud sang Ipc vdi: MCV <78 fl vd SBTTHC
p-thal (n=107) HbE(n=127)
Tong
MCV<78 fl Du'dng tinh
98 87
Am tinh 9 40 185 49
SBTTHC DirOng tinh
86 65
Am tinh 21 62 1521 83 Nhgn xet:
- Trong 107 ngudi p-thal: sdng Ipc bdng MCV co 98 ngudi duang tinh chiim 91,58%eft bd sdt 9 ngudi.
Sang Ipc bdng SBTTHC cd 86 ngudi ducmg tinh chiem 80.37 %. cdn bd sdt 21 ngucri.
- Trong 127 ngudi HbE: sang Ipc bdng MCV cd 87 ngudi duang tinh, chiim 68,5 %cd:
bo sot 40 ngudi.
Sdng Ipc bdng SBTTHC cd 65 ngudi ducmg tinh. chiim 51,18 %, con bd sdt 62 ngudi.
Hb (g/dl) MCV(fl) MCH (pg) RDW (%)
p-thal 11,91 ± 1.61 65,81 ± 7.38 21,23 ± 2.74 15,94 ± 1.16
HbE 12,74 ± 1.15 74,71 ± 6.83 24,82 ± 2.57 14,9 ± 3.09
P
>0,05
<0,01
<0,01
<0,05
Y HQC VigT NAM T H A N G 8 • S 6 B A C BlgTf2012
NhJin xit: C i c c h i s 6 H C 6 n l i 6 m H b E bi^n Bing 5. Cic chi s 6 H C c u a 2 trutaiR hpp HbC
TrUcing hdp 1 Truilng hdp 2
Hb 14,1 13,4
MCV 88,6 79,2
]6i it hem s o v 6 i n h d m P-tha
MCH 30,2 26,2
MCHC 34,1 33,1
RDWf 13,4 16,8
Nhgn x4t: Ngudi mang HbD khong cd bieu hipn thieu mdu vd cdc chi so HC cung khong bien ddi.
IV. BAN LU^N
6 nhdm ngudi Mudng tir 12 din 18 tu6i trong nghien cuu cua chung toi cd ty 1§ bat thudng Hb cao, chiem 20,12%. Trong dd g§p p- thal, HbE, E/p-thal, HbH vd ddc bipt cd cd HbD.
E)6i tupng nghien cim cua chiing tdi chi Id hpc sinh nhung cung cd tdi 2 trudng hpp thi n^ng (phu thupc truyin mdu) va 3 trudng hpp thi trung gian. Cdc chau nay van tham gia hpc t^p va sinh hoat. Dd Id sy thich nghi ky dipu ciia ca thi ddi vdi thieu mdu man tinh ciia thalssemia.
Qua do ta thay d cac dan tpc it ngudi tan sudt mang gen benh cao. Mdt khdc d day kien thuc phdng benh cdn han che, hau nhu khdng CO hieu biet ve di truyen nen ty le mdc benh tang len theo timg ndm do thdi quen hdn nhan ddng huyet thdng.
Day la mot thyc trang cdn dupe sy quan tam, trien khai cdc bien phdp tuyen truyen giao due sue khde vdi Hda Binh ndi rieng va cac dan tpc thieu sd ndi chung.
Vdi ty le luu hanh cao ddng thdi cua p- thal vd HbE nen vdn dl phat hien ngudi mang gen benh rdt cd y nghia trong vice tu vdn trudc hdn nhan. Dd la mot budc quan trpng trong chucmg trinh phdng chdng benh thlassemia ma da dupe dp dung thanh cdng tai Thai Lan va mpt sd nude Ddng Nam A.
Sir dung cac ddc diim MCV, RDW, SBTTHC, DCIP (dichlorphenolindophenol) dl sang Ipc ban ddu, thu hep cdc doi tupng cdn duac phan tfch thdnh phdn Hb la mo hinh
md nh&ng nude ndy dd dua ra mpt cdch cd hi$uqud[3] [4].
6 Vi^t Nam, Duang Bd Tryc (2007) dd nghien ciru sdng Ipc p-thal t^i cpng dong bdng vipc sir dyng MCV < 78 vd SBTTHC d nong dp nude muoi nhupc trucmg 0,35% dd cho thay kha ndng sdng Ipc dupe 93.75% vd 72.92% doi vdi cac bpnh Hb.[4]
Trong nghien cuu cua chung tdi d bdng 3 cho thdy vdi MCV = 78fl da sdng Ipc dupe 97 (91.55%) trudng hpp p- thal vd 87 (68,5%) trudng hpp HbE. Vdi SBTTHC (+) sdng Ipc dupe 86 (80,37%) trudng hpp p-thal vd 65 (51,18%) trudng hpp HbE. Kit qud ndy cung phii hop vdi nghien cuu ciia Duong Bd Tryc d tren. Vdi tung phuong ph^, mdt sd ngucri mang gen benh van bj bd sdt neu khdng dupe lam dien di Hb.
Nhu v^y gid tri sang Ipc vdi P-thal cao hon HbE. Diiu ndy cung phii hpp vi cac chi so HC ciia nhdm HbE it bien doi han so vdi p-thal (bang 4).
Trong nghien ciru nay, chung tdi phat hi?n dupe hai trudng hop mang HbD, chiim 0,16%. Kit qud nay tuong ducmg vdi kit qua cua Duong Bd Tryc vd cpng su (2007) tai Lai Chau. Nhu vay ta cd the nhan xet Id ty le mdc HbD trong cpng ddng la rdt thdp. Ngudi mang HbD khong cd bieu hien thieu mdu, HC binh sdc, kich thudc binh thudng hodc giam nh?. Vdi ty 1? thap, khong cd bieu hien g] vl lam sang va huyet hpc nen HbD rat de bi bd qua.
151
CHUYEN Bi: HOI NOHI KHOA HQC HUYgT HQC • TRUYJN MAU TOAN QUdC 2012 W
1 _ ^ Vi Kir L U A N ^'"^ thudng vi phin lopi b^nh Hemoglol^
Tin Slit bit thuimg huyit sJc t6 chiim ""y^' hpc 14m stag nhi Idioa, Nhi xuit liii in no/ Tr„..„A/. Y Hpc, tr 124-132.
20,12%.Tiongao „ „ ^ . ^„ „ , . - B . t J t h « n«ng: 0,16%. 2. NguyJn Cflng Khanh (1993), Tin ,ibm
„ . . , _ . m e o y *emog/oWB <* Kifr Afam, Tjp chi Y lipc ViS
" f ? f T ! T ; i N.m.l(ipl74(,48),trl|.ir
- H o t : lu,JI!/o. dpng cic kt thuit thich hpp di sang Ipc ba, -E/P-thal: 0,25%. thalassemia d cdng ding, Bi tii dp bf: . -HbH: 0,34%. 4 AndroulU Eleftheriou CM|t - HbD: 0,16%. Epidemiology and prevention o/thhusa^
TAI U(U THAM K H A O ^'"'" ""'"""'i'^ '='>•'*" '2- P " ' - " ' ' I. Nguyin CAng Khanh (2008), Hemoglobin
P H A T H I C N B ^ miH GEN PERFORIH^t H O I CHUMG T H ^ B A O M A U Of TRE EM BANG K f T H U A T GIAI T R I N H T ^ C H U d l BNA
H o i n g Anh Vfl', Nguyin VSn T i n Minh', Phan Thj Xiili'
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phit d t r i em thu'dng do d$t bien gen giy nin. nucleotide l i c.630C>T (P210P), C.8220T Tuy nhien, iftig dung k9 thuit phin til t^l Vlit {A274A) v i c.900C>T (H300H). Khio sat St Nam de chin doin dpt bien gen cho binh nhin biin cic gen lien quan khic trong HCm4 nil cin it dir^c quan t i m . Chung toi hin hinh dui?c hep tgc hSn hinh cho benh nhin Vi^ Nan.
nghien cCru niy nhim phit hlin dgt bien gen
peifxin tien 21 benh nhi bj HCTBM t^l TP.HCM SUMMARY
bSng ky thu$t glil trinh tg' chuol DNA. Chung toi DETECTION OF PERFORIN MUTATION IN chi phit hlin dpt bien mdi c.ll53C>T (R385W) PEDIATRIC PATIENTS VWTH
'TrungtSm Y sinh hpc phin tu'viBS mdn Md Phdi, Bpi hpc Y Duac TP.HCM 'Khoa Xet Nghl$m Huyet hpc, Benh vipn Nhl Bong H TP.HCM
'Bp mdn Huy& hpc, Bpi hpc Y Duttc TP.HCM vi Khoa Dl truyen hpc Phin TiJ;
Bpnh vipn TruySn mau-Huyethgc TP.HCM Phin bl$n khoa hpc: TS. Phan Th| Xinh 152