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Alpha thalassemia allelic frequency in Lebanon.
[alpha-thalassemia]
Hemoglobinopathies
are
the
most
common
reported
monogenic
disorders
worldwide
.
It
is
well
established
that
Mediterranean
and
Arab
countries
are
high
risk
areas
for
thalassemia
in
general
,
and
for
alpha
thalassemia
in
particular
.
Reports
of
alpha
thalassemia
gene
mutations
from
the
Lebanese
population
are
limited
.
We
investigated
the
spectrum
of
alpha
thalassemia
mutations
in
a
sample
of
70
unrelated
Lebanese
families
.
Six
different
mutations
of
alpha
thalassemia
gene
were
identified
.
The
most
prevalent
mutations
were
the
single
gene
deletion
-
α
(
3
.
7
)
(
43
%
)
and
the
non-
gene
deletion
α
2
IVS
1
[
-
5
nt
]
(
37
%
)
.
The
double
deletional
determinant
-
(
MED
)
was
detected
only
in
14
%
of
thalassemic
chromosomes
.
We
determined
the
mutational
spectrum
of
alpha
thalassemia
which
might
be
used
in
the
future
for
molecular
investigations
of
the
disease
in
susceptible
patients
in
our
population
.
Pediatr
Blood
Cancer
2015
;
62
:
120
-
122
.
©
2014
Wiley
Periodicals
,
Inc
.
Diseases
Validation
Diseases presenting
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated