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Detection of alpha(0)-thalassemia South-East Asian-type deletion by droplet digital PCR.
[alpha-thalassemia]
The
α
(
0
)
-
thalassemia
South
-
East
Asian
(
SEA
)
-
type
deletion
is
the
most
common
genetic
disorder
in
the
Asian
population
.
Couples
who
are
both
carriers
have
a
25
%
chance
of
conceiving
Bart
's
hydrops
fetalis
.
Therefore
,
results
from
carrier
screening
and
prenatal
diagnosis
frequently
need
to
be
available
rapidly
.
The
aim
of
this
study
was
to
implement
a
droplet
digital
polymerase
chain
reaction
(
ddPCR
)
for
diagnosis
of
α
(
0
)
-
thalassemia
SEA-
type
deletion
.
T
he
wild-
type
α-globin
gene
allele
and
α
(
0
)
-
thalassemia
SEA
allele
were
quantified
in
DNA
samples
of
20
normal
individuals
,
15
samples
with
α
(
0
)
-
thalassemia
SEA
trait
,
and
8
samples
with
Bart
's
hydrops
fetalis
using
the
ddPCR
.
The
DNA
copy
number
of
wild-
type
α-globin
gene
allele
and
α
(
0
)
-
thalassemia
SEA
allele
was
then
calculated
using
the
Quantasoft
analysis
software
.
The
mean
±
standard
deviation
(
SD
)
ratio
of
wild-
type
α-globin
gene
allele
and
α
(
0
)
-
thalassemia
SEA
allele
among
normal
individuals
,
samples
with
α
(
0
)
-
thalassemia
SEA
trait
,
and
Bart
's
hydrops
fetalis
were
clearly
distinguished
with
levels
of
1
.
78
Â
±
Â
0
.
49
,
0
.
85
Â
±
Â
0
.
14
,
and
0
.
03
Â
±
Â
0
.
03
,
respectively
.
The
ddPCR
may
be
one
alternative
technology
available
for
routine
clinical
diagnosis
of
α
(
0
)
-
thalassemia
SEA-
type
deletion
and
prenatal
diagnosis
of
Bart
's
hydrops
fetalis
.
