Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Treatment of alpha(0)-thalassemia (--(SEA)/--(SEA)) via serial fetal and post-natal transfusions: Can early fetal intervention improve outcomes?
[alpha-thalassemia]
Objective
and
importance
Homozygous
Southeast
Asian
alpha-thalassemia
mutation
(
-
-
(
SEA
)
/
-
-
(
SEA
)
)
results
in
deletion
of
all
alpha-globin
genes
(
alpha
(
0
)
-
thalassemia
)
.
Since
all
alpha-globin
chains
are
absent
,
hemoglobin
F
can
not
be
synthesized
,
and
hemoglobin
Bart
's
becomes
the
dominant
fetal
hemoglobin
.
Hemoglobin
Bart
's
is
a
γ
tetramer
with
a
very
high
oxygen
affinity
,
thus
oxygen
delivery
to
the
tissues
is
poor
.
Clinical
manifestations
include
severe
fetal
anemia
,
hydrops
fetalis
,
fetal
demise
,
and
high
risk
of
neurodevelopmental
impairment
in
the
rare
survivors
.
Clinical
presentation
A
39
-
year
-old
Vietnamese
woman
presented
to
our
center
at
28
0
/
7
weeks
'
gestation
with
fetal
alpha
(
0
)
-
thalassemia
(
-
-
(
SEA
)
/
-
-
(
SEA
)
type
deletion
)
and
ultrasound
markers
suggestive
of
severe
fetal
anemia
.
Intervention
The
fetus
was
treated
with
four
intrauterine
transfusions
followed
by
post-
natal
chronic
transfusions
.
Formal
neurodevelopmental
testing
(
Battelle
Developmental
Inventory
,
Second
Edition
)
was
performed
at
18
months
of
age
,
and
the
developmental
quotient
was
93
(
32nd
percentile
)
with
all
subdomains
noted
within
normal
limits
,
indicating
overall
intact
neurodevelopment
.
Conclusion
We
posit
that
earlier
diagnosis
and
fetal
treatment
,
prior
to
clinical
findings
suggestive
of
fetal
anemia
,
may
improve
long
-term
outcomes
by
enhancing
oxygen
delivery
to
the
tissues
of
the
developing
fetus
.
Diseases
Validation
Diseases presenting
"long-term outcomes"
symptom
acute rheumatic fever
alpha-thalassemia
aromatase deficiency
cholangiocarcinoma
classical phenylketonuria
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cushing syndrome
dystrophic epidermolysis bullosa
esophageal squamous cell carcinoma
hirschsprung disease
homocystinuria without methylmalonic aciduria
kabuki syndrome
lamellar ichthyosis
omenn syndrome
phenylketonuria
proteus syndrome
trochlear dysplasia
von hippel-lindau disease
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom