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Alpha thalassemia allelic frequency in Lebanon.
[alpha-thalassemia]
Hemoglobinopathies
are
the
most
common
reported
monogenic
disorders
worldwide
.
It
is
well
established
that
Mediterranean
and
Arab
countries
are
high
risk
areas
for
thalassemia
in
general
,
and
for
alpha
thalassemia
in
particular
.
Reports
of
alpha
thalassemia
gene
mutations
from
the
Lebanese
population
are
limited
.
We
investigated
the
spectrum
of
alpha
thalassemia
mutations
in
a
sample
of
70
unrelated
Lebanese
families
.
Six
different
mutations
of
alpha
thalassemia
gene
were
identified
.
The
most
prevalent
mutations
were
the
single
gene
deletion
-
α
(
3
.
7
)
(
43
%
)
and
the
non-
gene
deletion
α
2
IVS
1
[
-
5
nt
]
(
37
%
)
.
The
double
deletional
determinant
-
(
MED
)
was
detected
only
in
14
%
of
thalassemic
chromosomes
.
We
determined
the
mutational
spectrum
of
alpha
thalassemia
which
might
be
used
in
the
future
for
molecular
investigations
of
the
disease
in
susceptible
patients
in
our
population
.
Pediatr
Blood
Cancer
2015
;
62
:
120
-
122
.
©
2014
Wiley
Periodicals
,
Inc
.
