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Delineation of the molecular basis of borderline hemoglobin A2 in Chinese individuals.
[alpha-thalassemia]
The
"
gray
zone
"
of
borderline
hemoglobin
A
2
(
Hb
A
2
)
may
be
present
in
a
large
section
of
the
population
,
especially
in
countries
where
thalassemia
is
common
.
However
,
very
little
is
currently
known
of
the
molecular
basis
of
borderline
Hb
A
2
in
Chinese
individuals
.
In
this
study
,
we
performed
a
comprehensive
analysis
of
the
globin
genotypes
and
KLF
1
gene
mutations
associated
with
borderline
Hb
A
2
in
165
Chinese
subjects
.
Fifteen
(
9
.
1
%
)
were
positive
for
a
molecular
defect
in
the
α-
,
β-globin
genes
,
of
whom
,
α-thalassemia
mutations
and
α-globin
gene
triplication
were
found
in
eleven
cases
,
accounting
for
about
73
.
3
%
of
these
globin
gene
defects
.
Twenty
(
12
.
1
%
)
were
positive
for
a
molecular
defect
in
the
KLF
1
gene
.
Eight
different
mutations
were
identified
,
six
of
which
are
here
reported
for
the
first
time
.
The
most
common
is
the
G
176
AfsX
179
mutation
,
accounting
for
50
%
of
the
total
.
The
molecular
characterization
of
borderline
Hb
A
2
in
Chinese
individuals
is
significantly
different
than
in
Italian
population
.
Our
data
is
conductive
to
provision
of
genetic
counseling
for
Chinese
individuals
with
borderline
Hb
A
2
.
Diseases
Validation
Diseases presenting
"especially in countries where thalassemia is common"
symptom
alpha-thalassemia
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