Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
β -thalassemia intermedia in Northern Iraq: a single center experience.
[alpha-thalassemia]
To
investigate
the
molecular
basis
of
β
-
thalassemia
intermedia
in
Northern
Iraq
and
evaluate
its
management
practices
,
a
total
of
74
patients
from
51
families
were
enrolled
.
The
patients
were
clinically
and
hematologically
reevaluated
,
and
had
their
β-thalassemia
mutations
characterized
,
as
well
as
the
number
of
α-globin
genes
and
Xmn
I
(
G
)
γ-
158
(
C
>
T
)
polymorphism
studied
.
Out
of
14
β-thalassemia
mutations
identified
,
the
four
most
common
were
IVS-
I
-
6
(
T
>
C
)
[
33
.
3
%
]
,
IVS-
II
-
I
(
G
>
A
)
[
21
.
1
%
]
,
codon
82
/
83
(
-
G
)
[
10
.
1
%
]
,
and
codon
8
(
-
AA
)
[
8
.
1
%
]
.
The
most
common
contributing
factors
to
the
less
severe
phenotype
of
thalassemia
intermedia
were
found
to
be
the
inheritance
of
mild
β-thalassemia
alleles
and
the
Xmn
I
polymorphism
,
while
concomitant
α-thalassemia
had
a
limited
role
.
Several
complications
were
documented
including
:
pulmonary
hypertension
in
20
.
4
%
,
diabetes
mellitus
in
1
.
4
%
,
hypothyroidism
in
2
.
9
%
,
and
heart
failure
in
2
.
7
%
,
while
no
documented
cases
of
venous
thrombosis
were
found
.
Compared
to
their
counterparts
in
several
Mediterranean
countries
,
it
appears
that
our
patients
were
much
less
frequently
transfused
and
had
a
lower
proportion
of
patients
who
were
splenectomized
,
on
iron
chelation
,
or
hydroxycarbamide
therapy
.
Such
practices
require
further
scrutiny
to
ensure
that
a
better
level
of
care
is
provided
and
that
growth
retardation
,
skeletal
changes
,
and
other
complications
are
prevented
or
reduced
.
Diseases
Validation
Diseases presenting
"hypothyroidism"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
alpha-thalassemia
aromatase deficiency
congenital adrenal hyperplasia
cowden syndrome
cushing syndrome
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
hirschsprung disease
inclusion body myositis
kallmann syndrome
pendred syndrome
proteus syndrome
pyruvate dehydrogenase deficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated