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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
"first time"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
trochlear dysplasia
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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