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The prevalence and molecular spectrum of α- and β-globin gene mutations in 14,332 families of Guangdong Province, China.
[alpha-thalassemia]
To
reveal
the
familial
prevalence
and
molecular
variation
of
α-
and
β-globin
gene
mutations
in
Guangdong
Province
.
A
total
of
40
,
808
blood
samples
from
14
,
332
families
were
obtained
and
analyzed
for
both
hematological
and
molecular
parameters
.
A
high
prevalence
of
α-
and
β-globin
gene
mutations
was
found
.
Overall
,
17
.
70
%
of
pregnant
women
,
15
.
94
%
of
their
husbands
,
16
.
03
%
of
neonates
,
and
16
.
83
%
of
couples
(
pregnant
women
and
their
husbands
)
were
heterozygous
carriers
of
α-
or
β-thalassemia
.
The
regions
with
the
highest
prevalence
were
the
mountainous
and
western
regions
,
followed
by
the
Pearl
River
Delta
;
the
region
with
the
lowest
prevalence
was
Chaoshan
.
The
total
familial
carrier
rate
(
both
spouses
were
α-
or
β-thalassemia
carriers
)
was
1
.
87
%
,
and
the
individual
carrier
rates
of
α-
and
β-thalassemia
were
1
.
68
%
and
0
.
20
%
,
respectively
.
The
total
rate
of
moderate
-
to
-
severe
fetal
thalassemia
was
12
.
78
%
among
couples
in
which
both
parents
were
carriers
.
There
was
a
high
prevalence
of
α-
and
β-thalassemia
in
Guangdong
Province
.
This
study
will
contribute
to
the
development
of
thalassemia
prevention
and
control
strategies
in
Guangdong
Province
.
Diseases
Validation
Diseases presenting
"β-globin gene mutations"
symptom
alpha-thalassemia
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