JPAC Joint United Kingdom (UK) Blood Transfusion and Tissue Transplantation Services Professional Advisory Committee

15.5: External quality assurance

Although there is no National External Quality Assurance Scheme (NEQAS) for molecular blood grouping, it is important that any laboratory performing this testing for clinical purposes participates in some sort of external quality assurance scheme. The International Society of Blood Transfusion (ISBT) organises workshops every 2 years in which DNA samples from ‘patients’ and plasma from D negative pregnant women are distributed. In addition, it is possible to set up sample-exchange schemes with other laboratories carrying out similar work.

Table 15.1 Some blood group polymorphisms and associated gene sequence changes

System Gene Antigens Molecular test

MNS

GYPA

M/N

59 C/T, 71 G/A

Rh

RHD

D

Presence/absence

 

RHCE

C

Intron 2 insertion

 

 

c

307 C

 

 

E/e

676 G/C

Lutheran

LU or BCAM

Lua/Lub

230 A/G

Kell

KEL

K/k

578 T/C

 

 

Kpa/Kpb

841 T/C

 

 

Jsa/Jsb

1790 C/T

Duffy

FY or DARC

Fya/Fyb

125 G/A

 

 

Fy-null

−67t>c

Kidd

JK or SLC14A1

Jka/Jkb

838G/A

Diego

DI or SLC4A1

Dia/Dib

2561 T/C

Yt

YT or ACHE

Yta/Ytb

1057 C/A

Dombrock

DO or ART4

Doa/Dob

793 A/G

Colton

CO or AQP1

Coa/Cob

134 C/T