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Differences in the clinical and genotypic presentation of sickle cell disease around the world.
[alpha-thalassemia]
Sickle
cell
disease
(
SCD
)
,
caused
by
a
mutation
in
the
β-globin
gene
HBB
,
is
widely
distributed
in
malaria
endemic
regions
.
Cardiopulmonary
complications
are
major
causes
of
morbidity
and
mortality
.
Hemoglobin
SS
(
Hb
SS
)
represents
a
large
proportion
of
SCD
in
the
Americas
,
United
Kingdom
,
and
certain
regions
of
Africa
while
higher
proportions
of
hemoglobin
SC
are
observed
in
Burkina
Faso
and
hemoglobin
S
β-thalassemia
in
Greece
and
India
.
Coinheritance
of
α-thalassemia
and
persistence
of
hemoglobin
F
production
are
observed
in
highest
frequency
in
certain
regions
of
India
and
the
Middle
East
.
As
confirmed
in
the
PUSH
and
Walk-
PHaSST
studies
,
Hb
SS
,
absence
of
co
-inheriting
alpha-thalassemia
,
and
low
hemoglobin
F
levels
tend
to
be
associated
with
more
hemolysis
,
lower
hemoglobin
oxygen
saturations
,
greater
proportions
of
elevated
tricuspid
regurgitant
jet
velocity
and
brain
natriuretic
peptide
,
and
increased
left
ventricular
mass
index
.
Identification
of
additional
genetic
modifiers
will
improve
prediction
of
cardiopulmonary
complications
in
SCD
.
Diseases
Validation
Diseases presenting
"additional genetic modifiers"
symptom
alpha-thalassemia
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