External quality assurance - Molecular typing for red cell antigens - Chapter 15

It is important that any laboratory performing this testing for clinical purposes participates in some sort of external quality assurance scheme. There is a National External Quality Assurance Scheme (NEQAS) available for molecular blood grouping. 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 may be possible to set up sample‑exchange schemes with other laboratories carrying out similar work.

Tables 5.1.1 to 5.1.10 show examples of blood group polymorphisms and associated gene sequence changes.

Table 15.1.1: MNS system

Gene	Antigens	Molecular test
GYPA	M/N	59 C/T, 71 G/A

Table 15.1.2: Rh system

Gene	Antigens	Molecular test
RHD	D	Presence/absence
RHCE	C	Intron 2 insertion
RHCE	e	307 C
RHCE	E/e	676 G/C

Table 15.1.3: Lutheran system

Gene	Antigens	Molecular test
LU or BCAM	Lua/Lub	230 A/G

Table 15.1.4: Kell system

Gene	Antigens	Molecular test
KEL	K/k	578 T/C
KEL	Kpa/Kpb	841 T/C
KEL	Jsa/Jsb	1790 C/T

Table 15.1.5: Duffy system

Gene	Antigens	Molecular test
FY or ACKR1	Fya/Fyb	125 G/A
FY or ACKR1	Fy-null	–67t>c

Table 15.1.6: Kidd system

Gene	Antigens	Molecular test
JK or SCL14A1	Jka/Jkb	838 G/A

Table 15.1.7: Diego system

Gene	Antigens	Molecular test
DI or SCL4A1	Dia/Dib	2561 T/C

Table 15.1.8: Yt system

Gene	Antigens	Molecular test
YT or ACHE	Yta/Ytb	1057 C/A

Table 15.1.9: Dombrock system

Gene	Antigens	Molecular test
DO or ART4	Doa/Dob	793 A/G

Table 15.1.10: Colton system

Gene	Antigens	Molecular test
CO or AQP1	Coa/Cob	134 C/T