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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
"decreased formation of embryonic hb portland (ζ2"
symptom
alpha-thalassemia
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