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Known and new δ-globin gene mutations and other factors influencing Hb A2 measurement in the Omani population.
[alpha-thalassemia]
Although
δ-thalassemia
(
δ-thal
)
is
not
categorized
as
a
severe
disease
,
it
is
essential
to
know
the
molecular
spectrum
of
the
δ
gene
mutations
frequently
occurring
in
specific
areas
,
particularly
if
these
areas
are
characterized
by
a
high
rate
of
β-thalassemia
(
β-thal
)
such
as
Oman
.
This
is
because
coinherited
δ-globin
gene
defects
can
interfere
with
the
basic
diagnosis
of
a
β-thal
carrier
when
this
is
based
upon
the
measurement
of
the
Hb
A
2
only
.
Because
of
that
,
we
have
investigated
33
patients
with
low
Hb
A
2
levels
,
collected
from
different
hospitals
in
Oman
.
Some
cases
had
a
second
Hb
A
2
fraction
,
while
others
had
only
significantly
lower
Hb
A
2
levels
.
Among
these
patients
,
20
did
carry
a
δ-globin
gene
mutation
,
the
rest
were
carriers
of
α
thalassemia
(
α-thal
)
defects
or
could
be
iron
depleted
or
both
.
In
total
,
eight
different
known
mutations
and
two
novel
δ
variants
were
found
.
The
characterization
of
the
δ-globin
gene
mutation
spectrum
will
improve
carrier
diagnostics
and
genetic
counseling
in
the
Omani
population
screened
for
β-thal
.
Diseases
Validation
Diseases presenting
"high rate"
symptom
alpha-thalassemia
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cystinuria
dystrophic epidermolysis bullosa
erythropoietic protoporphyria
esophageal carcinoma
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
krabbe disease
liposarcoma
omenn syndrome
papillon-lefèvre syndrome
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
thoracic outlet syndrome
trochlear dysplasia
x-linked adrenoleukodystrophy
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