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The associations of SEA-alpha thalassemia 1, XmnI-Ggamma polymorphism and beta-globin gene mutations with the clinical severity of beta-thalassemia syndrome in northern Thailand.
[alpha-thalassemia]
At
least
three
genetic
factors
including
beta-thalassemia
mutations
,
alpha-thalassemia
,
and
XmnI-Ggamma
polymorphism
were
shown
to
modify
clinical
symptoms
in
beta-thalassemia
disease
.
To
determine
associations
of
beta-thalassemia
mutations
,
SEA-alpha
thalassemia
1
,
and
XmnI-Ggamma
polymorphism
,
and
clinical
severity
of
beta-thalassemia
in
northern
Thailand
.
Thirty
-
two
beta-thalassemia
major
and
28
beta-thalassemia
intermedia
attending
the
Thalassemia
Clinic
at
Maharaj
Nakorn
Chiang
Mai
Hospital
,
Chiang
Mai
,
Thailand
were
recruited
The
beta
-globin
gene
mutations
and
SEA-alpha
thalassemia
1
were
determined
by
MS
-PCR
and
Gap
-
PCR
,
respectively
.
The
XmnI-Ggamma
polymorphism
was
identified
by
RFLP
analysis
.
Odds
ratio
was
calculated
to
evaluate
the
associations
of
these
three
genetic
factors
and
clinical
symptoms
.
Eight
beta
-globin
gene
mutations
(
both
beta
0
and
beta
+
)
were
found
Twenty
-
nine
point
one
percent
of
the
patients
had
at
least
one
XmnI-Ggamma
site
(
XmnI-Ggamma
:
+
)
and
4
.
1
%
of
the
patients
were
heterozygote
for
the
SEA-alpha
thalassemia
1
.
The
beta
-globin
gene
mutations
showed
maximal
impact
and
the
XmnI-Ggamma
polymorphism
had
minimal
influence
on
clinical
severity
in
this
cohort
.
The
SEA-alpha
thalassemia
1
had
the
least
effect
on
the
clinical
severity
due
to
its
low
prevalence
in
these
patients
.
Although
these
three
genetic
factors
play
roles
in
modifying
clinical
symptoms
of
beta-thalassemia
,
the
beta-thalassemia
mutations
should
be
considered
first
,
followed
respectively
by
the
XmnI-Ggamma
polymorphism
and
the
SEA-alpha
thalassemia
1
,
in
management
and
prenatal
diagnosis
of
beta-thalassemia
in
northern
Thailand
.
Diseases
Validation
Diseases presenting
"prenatal diagnosis"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
harlequin ichthyosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
krabbe disease
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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