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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
.
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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