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Effect of Swiss-type heterocellular HPFH from XmnI-Gγ and HBBP1 polymorphisms on HbF, HbE, MCV and MCH levels in Thai HbE carriers.
[alpha-thalassemia]
Relationships
of
Swiss
-
type
heterocellular
HPFH
as
functions
of
XmnI-
(
G
)
γ
and
HBBP
1
:
rs
2071348
polymorphisms
and
HbF
,
HbE
,
MCV
and
MCH
in
HbE
carriers
were
evaluated
in
52
non-anemic
and
α-thalassemia-free
Thai
HbE
carriers
.
HbF
and
HbE
levels
were
measured
using
cation-exchange
HPLC
.
MCV
and
MCH
were
determined
using
an
automated
blood
counter
.
The
XmnI-
(
G
)
γ
polymorphism
was
identified
by
XmnI
digestion
of
amplified
products
,
and
the
HBBP
1
:
rs
2071348
polymorphism
by
tetra-
ARMS-PCR
.
HbF
levels
in
HbE
carriers
were
higher
than
those
in
normal
individuals
.
HbF
levels
>
0
.
8
%
indicated
the
Swiss
-
type
heterocellular
HPFH
in
these
subjects
,
rendering
a
prevalence
of
40
.
4
%
.
The
XmnI-
(
G
)
γ
(
+
)
and
HBBP
1
:
rs
2071348
(
C
)
alleles
were
modestly
positively
correlated
with
elevated
HbF
,
elevated
MCH
and
lowered
HbE
values
.
This
study
thus
confirms
the
influence
of
the
XmnI-
(
G
)
γ
and
HBBP
1
:
rs
2071348
polymorphisms
on
HbF
production
.
The
present
study
demonstrates
the
association
of
XmnI-
(
G
)
γ
and
HBBP
1
:
rs
2071348
with
HbF
,
HbE
,
MCV
and
MCH
in
HbE
carriers
for
the
first
time
,
and
highlights
the
effect
of
elevated
HbF
production
on
HbE
levels
.
Diseases
Validation
Diseases presenting
"type heterocellular"
symptom
alpha-thalassemia
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