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Phenotypic effect of α-globin gene numbers on Indian sickle β-thalassemia patients.
[alpha-thalassemia]
Sickle
cell
β-thalassemia
is
a
compound
heterozygous
state
of
β-thalassemia
and
sickle
cell
anemia
.
Patient
with
these
conditions
showed
mild
-
to
-
severe
clinical
phenotype
.
The
objective
of
this
study
was
to
evaluate
the
effects
of
α-globin
gene
numbers
on
the
phenotype
of
sickle
cell
β-thalassemia
patients
.
Seventy
-
five
sickle
cell
β-thalassemia
patients
were
characterized
.
Clinical
,
hematological
,
and
molecular
characterization
was
performed
in
all
subjects
.
Amplified
refectory
mutation
system-polymerase
chain
reaction
was
applied
for
β-thalassemia
mutation
study
while
α-genotyping
was
conducted
by
Gap
-
PCR
.
Highest
frequency
of
IVS
1
-
5
(
33
out
of
75
patients
)
β-thalassemia
genotype
was
recorded
.
Twenty
-
eight
patients
were
reported
with
α-globin
chain
deletion
while
four
had
α-triplications
(
Anti
α-
3
.
7
kb
)
.
Sickle
β-thalassemia
patients
with
α-chain
deletions
ameliorate
hematological
and
clinical
variables
.
This
study
indicates
that
the
coexistence
of
α-globin
chain
deletions
showed
mild
phenotype
instead
of
absence
of
α-chain
deletions
while
the
patients
with
triplication
of
α-genes
express
severe
phenotype
.
Diseases
Validation
Diseases presenting
"mild phenotype"
symptom
alpha-thalassemia
cowden syndrome
familial mediterranean fever
homocystinuria without methylmalonic aciduria
kabuki syndrome
monosomy 21
neonatal adrenoleukodystrophy
wolf-hirschhorn syndrome
zellweger syndrome
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