NHM MU ABO V Rh

i cng v nhm mu hng

cu
H thng nhm mu l mt nhm
khng nguyn c m ho bi cc
allele nm trn mt hoc nhiu locus
lin kt cht ch vi nhau v hu nh
khng c phn ng cho.
Gen nhm mu: NST thng
nh lut Menden
ng tri.


Gen Khng
nguyn
Kiu hnh Khng
th
H nhm
mu
KN (+) KN (-)
K
Jk
a

Fy
4

K
Jk
a

Fy4
K+
Jk(a+)
Fy:4
K-
Jk (a-)
Fy:-4
anti- K
anti- Jk
a

anti- Fy4
Kell
Kidd
Duffy

Tnh min dch
KN A, B: mnh nht
KN D: 80% ngi Rh m nhn 1 n v
mu Rh dng s to khng th
Tip sau l cc khng nguyn K, c, E,
Fy
a
, Jk
a
, S, s...
Cu trc khng nguyn
Carbohydrat: ABO, Lewis, P
galactose (Gal), N-acetyl-galactosamine (GalNAc),
N-acetyl-glucosamine (GlcNAc), fucose (Fuc), and
N-acetyl-neuraminic acid (NeuNAc).
Protein: Rh, Kidd
L cc protein xuyn mng (1 ln hay nhiu ln)
Glycoprotein: MNSs, Kell, Duffy v Lutheran
V tr ca khng nguyn
Phn ln khng nguyn trn mng hng cu.
Mt vi loi khng nguyn tn ti trong huyt thanh
v c hp th ln mng hng cu (nh khng
nguyn h Lewis).
Mt s khng nguyn ch xut hin trn mng hng
cu. Mt s khc va xut hin trn hng cu li
va xut hin trn bch cu, tiu cu, trong cc t
chc, hay ho tan trong huyt thanh, trong cc dch
tit (nc bt, sa...).
C mt s KN bnh thng b che lp bi mng hng
cu v ch c bc l ra di tc dng ca cc men
tiu m.
H NHM MU ABO
S lc lch s
H ABO l h nhm mu c pht
hin sm nht bi Landsteiner (bc sy
ngi Ao, gii Nobel Y hc 1930).
Nm 1901, Landsteiner pht hin cc
nhm mu A, nhm mu B v nhm
mu O
Nm 1902, Decastello v Sturli pht
hin ra nhm mu AB
Nhm mu KN trn
mng HC
KT trong HT Kiu gen
A A Anti-B AA/AO
B B Anti-A BB/BO
O Khng c Anti-A
Anti-B
OO
AB A, B Khng c AB
- 3 allele A, B, O, nm trn NST s 9, di truyn theo nh lut Mendel
- allele A v B l tri so vi allele O
- 2 allele A v B l ng tri
H NHM MU ABO
B: A x M: O
1)B AA M: OO
Con: AO: mu A
2)B AO M: OO
Con: AO: mu A
OO: mu O
H NHM MU ABO
B: O x M: AB
Con:mu AB

Khng phi l con ca b
B ca con l mu A, B hoc AB

Con mu O
Khng phi l con ca m
M ca con l mu A, B, hoc O

H NHM MU ABO
KN h ABO
Cc gen ABO khng to ra khng nguyn
trc tip m to ra men glycosyl-
transferase tng hp nn KN
Gen H: fucosyltransferase
Gen A: N-acetylgalactosaminyltransferase
Gen B: galactosaminyltransferase
Gen O: gen cm
H NHM MU ABO
Tin cht
KN H


KN A

KN B

Gal Gal GlcNac
Gal Gal GlcNac
GalNac
Gal Gal GlcNac
Gal
Gal Gal GlcNac
Glycoprotein
/glycolipid
Tin cht c 2 type tuy theo lin kt
gia Gal cui cung v GlcNAc



Cht nn c th l chui glycolipid,
glycoprotein hay glycosphinglipid
Gal GlcNac
Gal
GlcNac
1-> 3
1-> 4
type 1
type 2
H NHM MU ABO
KN A
KN B
KN H
KN A,B
KN H
AA/AO
OO
AB
acetylgalactosaminyltransferase
BB/BO
galactosaminyltransferase
acetylgalactosaminyltransferase
galactosaminyltransferase

Tin cht
fucosyltransferase
HH/Hh
H NHM MU ABO
KN h ABO (ABH)
bt u hnh thnh t ngy th 37 ca phi v
pht trin hon ton khi 3 tui
Ngoi hng cu, khng nguyn ABH cn c th
tm thy trn cc t bo khc (t bo biu m, tu
xng, thn, tinh trung, sa, t bo nc i,
lymphocyte v tiu cu) v trong dch tit. Khng
c khng nguyn ABH trn bch cu ht .
Tn sut: O > B > A > AB
V mt sinh hc phn t,
Gen A v B khc nhau 7 nucleotid
do enzyme do gen A v gen to ra B khc
nhau 4 acid amine,
Gen O b mt mt nucleotid so vi gen A
lm dch chuyn b 3 m ho (codon) to ra
O-transferase khng c kh nng thm phn t
ng vo cht H.
Khng nguyn trong dch tit
KN ABH ho tan c th c tit ra bi cc t bo
m (tissue cells)
c th tm thy chng trong tt c dch tit (ng tiu
ha, tit niu, h hp) ca c th tuy thuc vo gen ABO v
gen Se (secretor).
Gen Se (kiu gen SeSe, Sese) kim sot s hnh
thnh KN H trn tin cht type 1 (v gin tip l KN
ABO) trong t bo tit.
Gen Se khng nh hng n s hnh thnh KN ABH
trn hng cu. (C khong 80% dn s My c gen
Se).
S di truyn ca gen Se l c lp vi gen ABO
Khng nguyn trong huyt
tng
Khng nguyn A, B, H c trong huyt
tng ngi c gen Se v khng c
gen Se
i vi ngi c gen Se: type 1 v type
2
i vi ngi khng c gen Se: ch c
type 2
Khng nguyn ABO
C 4 khng nguyn chnh
Khng th
Khng th t nhin
Khng th min dch
T khng th
Khng th t nhin
Gm anti-A ngi mu B, anti-B ngi
mu A, anti-A v B ngi mu O, anti-A1
ngi mu A2, A2B, anti-H ngi mu A1,
A1B v Bombay.
y l nhng khng th xut hin khng
thng qua mt qu trnh min dch ro rng.
C th c hnh thnh do tip xc vi cc
cht polysaccaride c cu trc gn ging vi
cc cht ABH hin din ph bin vi khun,
ht cy.
Cc khng th thng xut hin sau khi sinh
vi thng, trong khong 3 n 6 thng u
cc khng th ny c chun rt thp
khng th pht hin c.
i khi c th tm thy khng th tr s sinh,
nhng phn ln cc trng hp ny l do khng
th ca m truyn qua nhau thai.
S sn sut khng th cao nht 5-10 tui,
sau th gim dn theo thi gian. Ngi
trn 65 tui thng c chun khng th
thp nn cung c th khng pht hin c.
S vng mt anti-A, anti-B ngi bnh
thng (tr nhm mu AB) l rt him,
tn sut <0,01%.
Ngoi s hin din trong huyt tng,
cn tm thy cc khng th trong sa,
dch mng bng, nc bt, nc mt.


Cc khng th t nhin thng l IgM,
Hot ng ti u 4-20
0
C (nhng vn c
th hot ng 37
0
C) v mi trng
NaCl 0,9%
B hu 70
0
C trong 10 pht,
Khng truyn qua nhau thai
Kt hp vi b th mnh.
a s anti-A v anti-B l IgM, mt phn nho
l IgG v IgA
Trong nhm mu O khng ch c anti-A, anti-
B m cn c anti-A,B.
Khng th anti-A,B thng l hn hp IgM, IgG
hoc IgM, IgG v IgA.
Khng th anti-A1 thng khng hot ng
37
0
C nn ch gy tiu hu mt phn nho
hng cu A1
Khng th anti-H (nu c) th thng hin
din vi nng thp. Anti-H hot ng
nhit thp, c bn cht thng l IgM. Do
n khng c vai tr quan trng trong
truyn mu.
ngha v mt lm sng
Khng th t nhin h ABO la nhng khng th
ngng kt mnh, lm tan hng cu mang
khng nguyn tng ng, hu qua la gy nn
nhng tai bin tiu huyt trm trong trong
long mch, co th a n t vong.
Trong thc hanh truyn mu, phai tuyt i trnh
khng xay ra nhng phan ng loi nay.
KT ABO co th gy bnh l tan mu tr s
sinh do bt ng nhom mu nhng thng
biu hin nh do KN ABO cha pht trin y
khi sinh.
Khng th min dch
l nhng khng th thng qua s min
dch ro rng
Ch yu l do mang thai bt thun hp (m mu
O, con mu A hay B).
Ngoi ra vic truyn huyt tng hay kt ta lnh
c cha cht A hay B c th gy min dch to
khng th tng ng.
Bn cht ca khng th min dch thng l
IgG, chng qua c nhau thai v khng b
hu dit 70
0
C trong 10 pht.
Biu hin chng to c anti-A hoc anti-B min
dch:
Tng hiu gi khng th
Tng nhy
Kh trung ha khng th vi cht A hay B
C tan mu v hot ng ca khng th 37
o
C
mnh hn 4
o
C (ngc so vi bnh thng).
Ngi nhm mu O va c khng th t
nhin va c khng th min dch gi l
ngi c nhm mu O "nguy him".
T khng th ABO
Tng i him gp
Trong 1 nghin cu: ch c 6 BN c t
KT ABO trong s 4668 bnh nhn c t
khng th

H NHM MU Rh
H NHM MU Rh
H Rhesus (Rh) l h thng nhm mu
c kiu hnh a dng nht
Khong 50 khng nguyn khc nhau.
5 KN chnh: D, C, c, E, e
3 cp alen D-d, C-c, E-e
ng tri
Gen d l len cm
H NHM MU Rh
Khng nguyn h Rh
L Protein
Tham gia vo cu trc mng hng cu
Khng biu hin trn cc m khc
Sau khi sinh pht trin hon thin
KN D to min dch mnh nht
C KN D: D (+) hay Rh dng (VN: >99,9%)
Khng c KN D: D (-) hay Rh m
H NHM MU Rh
Khng nguyn h Rh
KN D
u
: (D yu)
L bin th yu ca KN D
t bin gen to ra gen m ho khng th D yu
Allele D v C 2 haplotype khc nhau, v d nh Dce/dCe
Khng nguyn D dng khm (mosaic): trong trng hp
ny, mt hay nhiu phn ca khng nguyn D b thiu ht
Pht hin bng test coombs gin tip
C kh nng to min dch nhng ngi Rh m Lu
khi truyn mu
Phi coi ngi Du l nhm mu D(-) khi nhn mu v l
nhm mu D(+) khi cho mu
H NHM MU Rh
Khng nguyn h Rh
Di truyn: c 2 gen lin kt cht ch (trn
NST s 1)
Gen 1: m ha KN D (khng c KN d)
Gen 2: m ha cc KN C, c, E, e
C 8 haplotype: Dce, DcE, dce, Dce, dCE,
dCe, DCe, dcE
D
D
CE
ce
H NHM MU Rh
Khng th
Ch c khng th min dch
Do truyn mu
Mang thai
IgG: qua c nhau thai
Khng kt hp b th: tan mu ngoi
mch
Gy nn bnh l tan mu tr s sinh do
bt ng nhm mu m con
ngha lm sang ca h
nhm mu Rh
Phan ng do truyn mu
ngi nhm mu D(-), khi pht hin trong c th c anti-
D, tc l trong tin s tip xc vi hng cu D(+) do
mang thai hay truyn mu. Khng th xut hin khong 120
ngy sau ln tip xc u tin v 2- 7 ngy khi tip xc ln
hai.
xy ra ngoi lng mch, nn bnh nhn thng c biu
hin st, bilirubin mu tng nh, hemoglobin v haptoglobin
gim, nghim php Coomb trc tip dng tnh.
Bnh thiu mu tan mu tr s sinh
Bnh thiu mu tan mu tr s sinh do khng th Rh
thng nng n, khng nguyn D chim 50% trng hp.
D phng nguy c tan mu do bt ng Rh: s dng
globulin min dch khng Rh.