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A newly modified hemoglobin H inclusion test as a secondary screening for α(0)-thalassemia in Southeast Asian populations.
[alpha-thalassemia]
Screening
for
α
(
0
)
-
thalassemia
is
usually
associated
with
a
high
false-
positive
rate
,
leading
to
an
unnecessary
PCR
workload
for
accurate
diagnosis
.
We
have
developed
a
modified
Hb
H
inclusion
test
for
use
as
a
secondary
screening
.
This
test
was
performed
on
young
red
blood
cell
enriched
fractions
using
dextran
sedimentation
.
The
study
was
performed
in
100
subjects
positive
on
initial
screening
.
Confirmatory
tests
included
Hb
analysis
and
a
multiplex
PCR
assay
to
identify
α
(
0
)
-
thalassemia
deletions
.
A
modified
Hb
H
inclusion
test
was
positive
in
31
cases
,
30
of
whom
were
α
(
0
)
-
thalassemia
carriers
(
97
%
)
.
The
remaining
case
(
3
.
0
%
)
was
homozygous
for
α
(
+
)
-
thalassemia
.
The
remaining
69
cases
with
a
negative
Hb
H
inclusion
test
included
normal
subjects
,
α
(
+
)
-
thalassemia
carriers
and
β-thalassemia
carriers
.
Two
of
them
(
2
/
69
,
3
.
0
%
)
were
found
to
be
double
heterozygotes
for
β
(
0
)
-
thalassemia
and
α
(
0
)
-
thalassemia
.
The
overall
sensitivity
and
specificity
of
the
modified
Hb
H
inclusion
test
for
screening
of
α
(
0
)
-
thalassemia
were
94
.
0
and
99
.
0
%
,
respectively
.
Therefore
,
we
recommend
the
use
of
this
test
in
combination
with
Hb
analysis
to
exclude
cases
with
αβ-thalassemia
.
This
should
lead
to
a
significant
reduction
in
the
number
of
cases
referred
for
PCR
analysis
of
α
(
0
)
-
thalassemia
by
about
50
.
0
%
.
Diseases
Validation
Diseases presenting
"blood cell"
symptom
allergic bronchopulmonary aspergillosis
alpha-thalassemia
cholangiocarcinoma
congenital diaphragmatic hernia
esophageal squamous cell carcinoma
familial mediterranean fever
oculocutaneous albinism
phenylketonuria
pyomyositis
scrub typhus
severe combined immunodeficiency
zellweger syndrome
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