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Molecular Characterization of a β-Thalassemia Intermedia Patient Presenting Inferior Vena Cava Thrombosis: Interaction of the β-Globin Erythroid Krüppel-Like Factor Binding Site Mutation with Hb E and α(+)-Thalassemia.
[alpha-thalassemia]
Abstract
The
molecular
basis
and
hematological
phenotype
of
adult
Thai
β-thalassemia
intermedia
(
β-
TI
)
patients
encountered
with
inferior
vena
cava
(
IVC
)
thrombosis
were
investigated
.
Hematological
and
molecular
analysis
revealed
a
trait
previously
not
described
.
The
disease
was
caused
by
interaction
of
the
β
(
+
)
-
thalassemia
(
β
(
+
)
-
thal
)
gene
with
the
-
90
(
C
 
>
 
T
)
(
HBB
:
c
.
-
140
C
 
>
 
T
)
transition
within
the
erythroid
Krüppel-like
factor
(
EKLF
)
binding
site
of
the
β-globin
gene
promoter
with
Hb
E
(
HBB
:
c
.
79
G
 
>
 
A
)
and
α
(
+
)
-
thalassemia
(
α
(
+
)
-
thal
)
.
Hematological
data
of
the
patient
were
compared
with
those
of
heterozygous
forms
of
these
defects
found
in
his
family
members
and
different
genotype-phenotype
interactions
are
illustrated
.
Globin
gene
haplotype
analysis
indicates
an
independent
origin
of
this
Thai
β
(
+
)
-
thal
gene
.
Accurate
diagnoses
as
well
as
knowledge
of
genotype-phenotype
relationships
were
required
for
providing
appropriate
management
of
such
cases
.
Diseases
Validation
Diseases presenting
"different genotype-phenotype interactions"
symptom
alpha-thalassemia
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