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An Alu Element-Mediated 28.5 kb α-Thalassemia Deletion Found in a Chinese Family.
[alpha-thalassemia]
Abstract
Over
95
.
0
%
of
the
α-thalassemia
(
α-thal
)
cases
in
southern
China
are
caused
by
large
deletions
involving
the
α-globin
gene
.
Here
,
we
describe
the
molecular
characterization
of
a
novel
28
.
5
 
kb
deletion
that
eliminated
one
of
the
duplicated
α-globin
genes
in
a
Chinese
family
.
The
deletion
breakpoint
fragment
involved
Alu
repeat
sequences
,
suggesting
a
homologous
recombination
event
.
Phenotypic
analysis
on
the
heterozygous
carrier
of
this
deletion
revealed
that
it
leads
to
a
very
mild
phenotype
.
Because
of
a
25
.
0
%
risk
of
Hb
H
(
β
4
)
disease
in
the
offspring
when
in
combination
with
another
α
(
0
)
-
thal
allele
,
we
should
not
ignore
screening
the
deletion
in
prenatal
diagnosis
in
order
to
decrease
reproductive
risk
.
Diseases
Validation
Diseases presenting
"homologous recombination event"
symptom
alpha-thalassemia
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