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Influence of the βs haplotype and α-thalassemia on stroke development in a Brazilian population with sickle cell anaemia.
[alpha-thalassemia]
Stroke
is
a
catastrophic
complication
of
sickle
cell
anaemia
(
SCA
)
and
is
one
of
the
leading
causes
of
death
in
both
adults
and
children
with
SCA
.
Evidence
suggests
that
some
genetic
polymorphisms
could
be
related
to
stroke
development
,
but
their
association
remains
controversial
.
Here
,
we
performed
genotyping
of
five
published
single
nucleotide
polymorphisms
,
the
α-thalassemia
genotype
,
the
G
6
PD
A
(
-
)
variant
deficiency
,
and
the
β
(
S
)
haplotype
in
a
large
series
of
SCA
patients
with
well-defined
stroke
phenotypes
.
Of
261
unrelated
SCA
patients
included
in
the
study
,
67
(
9
.
5
Â
%
)
presented
a
documented
,
primary
stroke
event
.
Markers
of
haemolysis
(
red
blood
cell
(
RBC
)
counts
,
p
 
=
 
0
.
023
;
reticulocyte
counts
,
p
 
=
 
0
.
003
;
haemoglobin
(
Hb
)
levels
,
p
 
<
 
0
.
001
;
indirect
bilirubin
levels
,
p
 
=
 
0
.
006
;
lactate
dehydrogenase
(
LDH
)
levels
,
p
 
=
 
0
.
001
)
were
associated
with
stroke
susceptibility
.
Genetically
,
only
the
β
(
S
)
haplotype
(
odds
ratio
(
OR
)
2
.
9
,
95
Â
%
confidence
interval
(
CI
)
1
.
56
to
4
.
31
;
p
 
=
 
0
.
003
)
and
the
α
(
3
.
7
kb
)
-
thalassemia
genotype
(
OR
0
.
31
,
95
Â
%
CI
0
.
11
to
0
.
83
;
p
 
=
 
0
.
02
)
were
associated
with
increased
and
decreased
stroke
risk
,
respectively
.
In
multivariate
analysis
,
the
β
(
S
)
haplotype
was
independently
associated
with
stroke
development
(
OR
2
.
26
,
95
Â
%
CI
1
.
16
to
4
.
4
;
p
 
=
 
0
.
016
)
.
Our
findings
suggest
that
only
the
β
(
S
)
haplotypes
and
the
α
(
3
.
7
kb
)
-
thalassemia
genotype
modulate
the
prevalence
of
stroke
in
our
SCA
population
.
Genetic
heterogeneity
among
different
populations
may
account
for
the
irreproducibility
amongst
different
studies
.
Diseases
Validation
Diseases presenting
"sickle cell anaemia"
symptom
alpha-thalassemia
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
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