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Known and new hemoglobin A2 variants in Thailand and implication for β-thalassemia screening.
[alpha-thalassemia]
We
reported
molecular
and
hematological
characteristics
of
δ-globin
chain
variants
and
addressed
diagnostic
consideration
of
complex
hemoglobinopathies
caused
by
their
interactions
with
α-
and
β-thalassemias
.
Study
was
done
on
four
unrelated
Thai
subjects
with
second
Hb
A
2
fractions
.
Hb
analysis
was
carried
out
using
automated
HPLC
and
capillary
electrophoresis
.
Mutations
were
identified
by
DNA
analysis
.
Novel
diagnostic
methods
based
on
PCR-RFLP
and
allele
specific
PCR
were
developed
.
Hb
analysis
revealed
Hb
A
2
variant
in
all
cases
.
DNA
analysis
of
δ-globin
gene
identified
the
Hb
A
2
-
Melbourne
[
δ
43
(
CD
2
)
Glu
→
Lys
]
in
combination
with
α
(
+
)
-
thalassemia
,
α
(
0
)
-
thalassemia
and
β
(
0
)
-
thalassemia
in
the
first
three
cases
,
respectively
.
Analysis
of
the
remaining
case
identified
a
novel
δ-
Hb
variant
namely
the
Hb
A
2
-
Lampang
[
δ
47
(
CD
6
)
GAT
→
AAT
;
Asp
→
Asn
]
found
in
association
with
Hb
E
and
α
(
+
)
-
thalassemia
.
These
mutations
could
be
identified
using
PCR-RFLP
and
allele
specific
PCR
assays
developed
.
It
is
necessary
to
recognize
the
Hb
A
2
variant
and
to
combine
the
amounts
of
Hb
A
2
and
Hb
A
2
-
variant
for
a
total
Hb
A
2
value
to
make
better
diagnostic
of
these
complex
syndromes
.
Co
-inheritance
of
these
multiple
globin
gene
defects
could
lead
to
complex
hemoglobinopathies
requiring
comprehensive
Hb
and
molecular
assessments
.
Diseases
Validation
Diseases presenting
"complex syndromes"
symptom
alpha-thalassemia
cohen syndrome
hirschsprung disease
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