Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Molecular epidemiological characterization and health burden of thalassemia in Jiangxi Province, P. R. China.
[alpha-thalassemia]
Thalassemia
is
the
most
common
inherited
disease
in
southern
China
.
However
,
this
disorder
is
usually
ignored
by
Jiangxi
provincial
health
system
and
government
due
to
lack
of
epidemiological
data
.
A
total
of
9489
samples
from
Hakka
Han
and
Gan-speaking
Han
in
three
geographical
areas
of
Jiangxi
Province
were
analyzed
for
both
complete
blood
cell
(
CBC
)
count
and
reverse
dot
blot
(
RDB
)
gene
chip
for
thalassemia
.
1182
cases
of
suspected
thalassemia
carriers
with
microcytosis
(
MCV
<
82
fL
)
were
found
by
CBC
count
,
and
were
tested
by
RDB
gene
chip
to
reveal
a
total
of
594
mutant
chromosomes
,
including
433
α-thalassemia
mutant
chromosomes
and
172
β-thalassemia
mutant
chromosomes
.
Our
results
indicated
a
higher
prevalence
of
thalassemia
with
the
heterozygote
frequency
of
9
.
49
%
in
southern
Jiangxi
province
,
whereas
the
low
frequency
was
found
in
middle
(
3
.
90
%
)
and
northern
Jiangxi
(
2
.
63
%
)
.
Based
on
the
epidemiological
data
,
the
estimated
numbers
of
pregnancies
in
Jiangxi
province
in
which
the
fetus
is
at
risk
for
β-thalassemia
major
or
intermedia
,
Bart
's
hydrops
fetalis
and
Hb
H
disease
are
34
(
95
%
CI
,
16
to
58
)
,
79
(
95
%
CI
,
50
to
114
)
and
39
(
95
%
CI
,
27
to
58
)
per
year
,
respectively
.
We
suggested
that
prevention
network
of
thalassemia
should
be
established
,
especially
in
high
prevalent
southern
Jiangxi
(
Hakka
Han
)
,
including
establishment
of
thalassemia
database
collection
,
hematological
analysis
laboratories
,
genetic
counselling
clinics
,
prenatal
diagnosis
centers
and
neonatal
screening
centers
.
Diseases
Validation
Diseases presenting
"hydrops fetalis"
symptom
alpha-thalassemia
neonatal adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated
