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Molecular analysis and association with clinical and laboratory manifestations in children with sickle cell anemia.
[alpha-thalassemia]
To
analyze
the
frequency
of
β
(
S
)
-
globin
haplotypes
and
alpha-thalassemia
,
and
their
influence
on
clinical
manifestations
and
the
hematological
profile
of
children
with
sickle
cell
anemia
.
The
frequency
of
β
(
S
)
-
globin
haplotypes
and
alpha-thalassemia
and
any
association
with
clinical
and
laboratorial
manifestations
were
determined
in
117
sickle
cell
anemia
children
aged
3
-
71
months
.
The
confirmation
of
hemoglobin
SS
and
determination
of
the
haplotypes
were
achieved
by
polymerase
chain
reaction-restriction
fragment
length
polymorphism
,
and
alpha-thalassemia
genotyping
was
by
multiplex
polymerase
chain
reaction
(
single
-tube
multiplex-polymerase
chain
reaction
)
.
The
genotype
distribution
of
haplotypes
was
43
(
36
.
7
%
)
Central
African
Republic
/
Benin
,
41
(
35
.
0
%
)
Central
African
Republic
/
Central
African
Republic
,
20
(
17
.
0
%
)
Rare
/
atypical
,
and
13
(
11
.
1
%
)
Benin
/
Benin
.
The
frequency
of
the
α
3
.
7
deletion
was
1
.
71
%
as
homozygous
(
-
α
3
.
7
/
-
α
3
.
7
)
and
11
.
9
%
as
heterozygous
(
-
α
3
.
7
/
αα
)
.
The
only
significant
association
in
respect
to
haplotypes
was
related
to
the
mean
corpuscular
volume
.
The
presence
of
alpha-thalassemia
was
significantly
associated
to
decreases
in
mean
corpuscular
volume
,
mean
corpuscular
hemoglobin
and
reticulocyte
count
and
to
an
increase
in
the
red
blood
cell
count
.
There
were
no
significant
associations
of
β
(
S
)
-
globin
haplotypes
and
alpha-thalassemia
with
clinical
manifestations
.
In
the
study
population
,
the
frequency
of
alpha-thalassemia
was
similar
to
published
data
in
Brazil
with
the
Central
African
Republic
haplotype
being
the
most
common
,
followed
by
the
Benin
haplotype
.
β
(
S
)
-
globin
haplotypes
and
interaction
between
alpha-thalassemia
and
sickle
cell
anemia
did
not
influence
fetal
hemoglobin
concentrations
or
the
number
of
clinical
manifestations
.
Diseases
Validation
Diseases presenting
"anemia"
symptom
22q11.2 deletion syndrome
alpha-thalassemia
canavan disease
child syndrome
coats disease
congenital toxoplasmosis
cowden syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dracunculiasis
erythropoietic protoporphyria
esophageal adenocarcinoma
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
omenn syndrome
scrub typhus
sneddon syndrome
typhoid
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
This symptom has already been validated
