Dear Gordon,
A few years ago we experimented with a simple screen for G-6PD deficiency.
We had no need to screen large numbers- our problem was that our screening
test for galactosaemia also gives abnormal results in G6PD deficiency, and
although it's as rare as hen's teeth in the Scottish population we needed to
quickly and easily exclude it.
We tried Sigma's screening kit (Cat no 203A). The method is very similar to
our galactosaemia screen. The substrate contains Glucose-6-P and NADP and
the enzyme is added as the patient haemolysed blood (I woiuld have doubts
about recovering active enzyme by elution of blood spots). After an
incubation at 37' of 15 minutes by my memory aliquots of the reaction
mixture are spotted onto filter paper and viewed under UV. In patients with
normal activity spots are strongly fluorescent. Anything else needs to be
followed up by quantitative assay. Sigma supplies deficient, intermediate
and normal controls.
In our limited experience it worked very well, but we subsequently decided
that Haematology were better set up than ourselves to give us a quick and
quantitative result.
Regards
Jean M. Kirk
Paediatric Biochemistry
Royal Hospital for Sick Children
Sciennes Rd
Edinburgh EH9 1LF
Tel + 44 (0)131 536 0415
Fax + 44 (0)131 536 0410
E-mail [log in to unmask]
-----Original Message-----
From: [log in to unmask]
[mailto:[log in to unmask]]On Behalf Of g.challand
Sent: 12 January 2000 12:09
To: [log in to unmask]
Subject: Screening neonates for G6PD deficiency
Here in Reading we have a considerable population from ethnic minority
groups. For some time there has been a policy of screening neonates from
ethnic minorities for Haemoglobin variants using cord blood.
I have now been asked whether this can be extended to include screening for
G6PD deficiency. Does anyone have experience of this. Could it be done
using cord blood or a Guthrie blood spot?
Thanks in advance for help
Gordon Challand
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