Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Early Onset of Fetal Hydrops Associated with the α-Thalassemia - -(THAI) Deletion.
[alpha-thalassemia]
Abstract
α-
Thalassemia
(
α-thal
)
is
common
in
southern
China
.
Homozygosity
for
the
-
-
(
SEA
)
(
Southeast
Asian
)
α-globin
gene
deletion
is
the
most
common
cause
of
the
Hb
Bart
's
(
γ
4
)
disease
.
Occasionally
,
other
α
(
0
)
-
thal
deletions
can
also
be
found
.
In
this
study
,
we
report
a
case
with
an
atypical
form
of
Hb
Bart
's
disease
.
The
fetus
was
a
compound
heterozygote
for
the
-
-
(
SEA
)
and
-
-
(
THAI
)
deletions
and
presented
different
clinical
features
from
that
of
traditional
Hb
Bart
's
disease
with
the
-
-
(
SEA
)
deletion
in
the
homozygous
state
.
The
early
onset
of
fetal
hydrops
is
attributed
to
the
decreased
formation
of
embryonic
Hb
Portland
(
ζ
2
γ
2
)
,
which
is
proposed
as
a
candidate
for
reactivation
in
cases
of
severe
α-thal
.
Our
finding
may
have
potentially
important
implications
for
clinical
decisions
in
a
program
using
ultrasonography
to
identify
signs
of
homozygous
α
(
0
)
-
thal
.
Diseases
Validation
Diseases presenting
"early onset"
symptom
22q11.2 deletion syndrome
alexander disease
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
coats disease
cohen syndrome
congenital diaphragmatic hernia
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erythropoietic protoporphyria
fabry disease
familial mediterranean fever
homocystinuria without methylmalonic aciduria
inclusion body myositis
kindler syndrome
krabbe disease
papillon-lefèvre syndrome
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
scrub typhus
sneddon syndrome
triple a syndrome
von hippel-lindau disease
werner syndrome
wolf-hirschhorn syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom