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Haptoglobin, alpha-thalassaemia and glucose-6-phosphate dehydrogenase polymorphisms and risk of abnormal transcranial Doppler among patients with sickle cell anaemia in Tanzania.
[alpha-thalassemia]
Transcranial
Doppler
ultrasonography
measures
cerebral
blood
flow
velocity
(
CBFv
)
of
basal
intracranial
vessels
and
is
used
clinically
to
detect
stroke
risk
in
children
with
sickle
cell
anaemia
(
SCA
)
.
Co
-inheritance
in
SCA
of
alpha-thalassaemia
and
glucose-
6
-
phosphate
dehydrogenase
(
G
6
PD
)
polymorphisms
is
reported
to
associate
with
high
CBFv
and
/
or
risk
of
stroke
.
The
effect
of
a
common
functional
polymorphism
of
haptoglobin
(
HP
)
is
unknown
.
We
investigated
the
effect
of
co
-inheritance
of
these
polymorphisms
on
CBFv
in
601
stroke
-free
Tanzanian
SCA
patients
aged
<
24
Â
years
.
Homozygosity
for
alpha-thalassaemia
3
·
7
deletion
was
significantly
associated
with
reduced
mean
CBFv
compared
to
wild-
type
(
β-coefficient
-
16
·
1
Â
cm
/
s
,
P
Â
=
Â
0
·
002
)
adjusted
for
age
and
survey
year
.
Inheritance
of
1
or
2
alpha-thalassaemia
deletions
was
associated
with
decreased
risk
of
abnormally
high
CBFv
,
compared
to
published
data
from
Kenyan
healthy
control
children
(
Relative
risk
ratio
[
RRR
]
Â
=
Â
0
·
53
[
95
%
confidence
interval
(
CI
)
:
0
·
35
-
0
·
8
]
&
RRR
Â
=
Â
0
·
43
[
95
%
CI
:
0
·
23
-
0
·
78
]
)
,
and
reduced
risk
of
abnormally
low
CBFv
for
1
deletion
only
(
RRR
Â
=
Â
0
·
38
[
95
%
CI
:
0
·
17
-
0
·
83
]
)
.
No
effects
were
observed
for
G
6
PD
or
HP
polymorphisms
.
This
is
the
first
report
of
the
effects
of
co
-inheritance
of
common
polymorphisms
,
including
the
HP
polymorphism
,
on
CBFv
in
SCA
patients
resident
in
Africa
and
confirms
the
importance
of
alpha-thalassaemia
in
reducing
risk
of
abnormal
CBFv
.
Diseases
Validation
Diseases presenting
"reduced mean cbfv compared to wild-type"
symptom
alpha-thalassemia
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