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Implication of Globin Gene Expression, Hemoglobin F and Hemoglobin E Levels on β-Thalassemia/Hb E Disease Severity.
[alpha-thalassemia]
One
of
the
factors
affecting
the
degree
of
severity
in
β-thalassemia
disease
is
the
presence
of
unmatched
α-hemoglobin
chains
.
Thus
,
the
expression
levels
of
globin
genes
in
reticulocytes
of
β-thalassemia
subjects
were
measured
using
quantitative
RT-PCR
,
demonstrating
that
α
/
β
globin
mRNA
ratio
,
as
well
as
levels
of
γ-globin
mRNA
and
Hb
F
,
increased
with
progressing
degree
of
β
globin
synthesis
defect
.
The
levels
of
γ-globin
mRNA
and
Hb
F
could
not
be
directly
correlated
with
severity
of
β-thalassemia
/
Hb
E
disease
due
to
a
low
statistical
power
of
this
analysis
.
Higher
levels
of
Hb
E
were
present
,
however
,
in
clinically
mild
patients
,
as
compared
to
moderately
severe
β-thalassemia
/
Hb
E
subjects
.
This
suggests
that
in
β-thalassemia
/
Hb
E
disease
,
elevation
of
Hb
E
level
through
enhancing
correctly
spliced
β
(
E
)
-
globin
mRNA
offers
another
approach
in
ameliorating
disease
severity
.
In
addition
,
co
-inheritance
of
α-thalassemia
2
trait
in
β-thalassemia
/
Hb
E
subjects
was
associated
with
milder
outcome
compared
with
those
with
the
same
β-thalassemia
genotypes
,
confirming
the
notion
of
the
beneficial
effect
of
a
more
balanced
α
:
β-globin
chain
ratio
.
Diseases
Validation
Diseases presenting
"moderately severe β-thalassemia/hb"
symptom
alpha-thalassemia
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