Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Characterizing a cohort of α-thalassemia couples collected during screening for hemoglobinopathies: 14 years of an Iranian experience.
[alpha-thalassemia]
Our
study
aimed
to
determine
the
number
of
couples
with
normal
hemoglobin
(
Hb
)
electrophoresis
and
low
-borderline
hematological
values
,
which
may
come
up
with
a
clinically
critical
status
in
their
offspring
.
The
number
of
couples
at
risk
for
severe
α-thalassemia
(
α-thal
)
needed
to
be
estimated
before
recommending
genetic
counseling
and
prenatal
diagnosis
(
PND
)
.
During
the
past
14
years
,
from
at
least
7000
referrals
,
754
couples
were
investigated
for
α-thal
by
direct
mutation
detection
methods
followed
by
reverse
strip
assay
and
α-globin
gene
sequencing
for
inconclusive
cases
.
Detection
of
silent
β-thalassemia
(
β-thal
)
mutations
was
done
in
suspected
cases
by
complete
β-globin
gene
sequencing
.
We
were
able
to
provide
a
molecular
diagnosis
in
87
.
3
%
(
658
/
754
)
of
couples
.
A
total
of
9
.
1
%
(
60
/
658
)
may
have
a
clinically
significant
hemoglobinopathy
in
their
offspring
.
Significant
conditions
included
hydrops
fetalis
(
20
.
0
%
;
12
/
60
)
,
certain
Hb
H
(
β
4
)
genotypes
(
78
.
3
%
;
47
/
60
)
and
β-thal
intermedia
(
β-
TI
)
(
1
.
7
%
;
1
/
60
)
.
The
diagnostic
flowchart
for
couples
with
microcytic
hypochromic
anemia
in
countries
with
a
high
prevalence
of
hemoglobinopathies
should
include
α
and
β
gene
sequencing
.
As
our
results
indicate
,
every
nine
out
of
100
of
these
couples
will
face
significant
hemoglobinopathies
and
every
two
out
of
100
can
carry
Hb
Bart
's
(
γ
4
)
hydrops
fetalis
in
their
pregnancies
.
For
such
cases
,
PND
should
be
utilized
to
allow
the
carrier
couples
to
decide
whether
or
not
to
abort
the
fetus
.
