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A random Abstract
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Genetic association studies in β-hemoglobinopathies.
[alpha-thalassemia]
Characterization
of
the
molecular
basis
of
the
β-thalassemias
and
sickle
cell
disease
(
SCD
)
clearly
showed
that
individuals
with
the
same
β-globin
genotypes
can
have
extremely
diverse
clinical
severity
.
Two
key
modifiers
,
an
innate
ability
to
produce
fetal
hemoglobin
and
coinheritance
of
α-thalassemia
,
both
derived
from
family
and
population
studies
,
affect
the
pathophysiology
of
both
disorders
at
the
primary
level
.
In
the
past
2
decades
,
scientific
research
had
applied
genetic
approaches
to
identify
additional
genetic
modifiers
.
The
review
summarizes
recent
genetic
studies
and
key
genetic
modifiers
identified
and
traces
the
story
of
fetal
hemoglobin
genetics
,
which
has
led
to
an
emerging
network
of
globin
gene
regulation
.
The
discoveries
have
provided
insights
on
new
targets
for
therapeutic
intervention
and
raise
possibilities
of
developing
fetal
hemoglobin
predictive
diagnostics
for
predicting
disease
severity
in
the
newborn
and
for
integration
into
prenatal
diagnosis
to
better
inform
genetic
counseling
.
