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Pattern of hemoglobinopathies and thalassemias in upper Assam region of North Eastern India: high performance liquid chromatography studies in 9000 patients.
[alpha-thalassemia]
The
hereditary
hemoglobin
(
Hb
)
disorders
are
the
most
commonly
encountered
single
gene
disorders
in
India
.
Data
pertaining
to
the
pattern
of
hemoglobinopathies
and
thalassemias
is
scarce
in
North
East
India
,
and
hence
it
was
considered
worthwhile
to
study
these
disorders
using
a
large
series
of
patients
referred
to
a
clinical
diagnostic
laboratory
.
A
total
of
9000
patients
referred
for
Hb
variant
analysis
were
studied
to
identify
hemoglobinopathies
and
thalassemias
in
Upper
Assam
region
of
North
East
India
.
This
study
was
performed
by
high
performance
liquid
chromatography
(
HPLC
)
using
BIORAD
variant
Hb
typing
system
.
O
ut
of
9000
patients
studied
,
abnormal
Hb
fractions
were
seen
in
5320
patients
.
The
HbE
gene
was
detected
in
4315
patients
of
which
HbE
trait
was
seen
in
2294
followed
by
HbE
disease
in
1892
.
There
were
114
HbE
beta
thalassemia
patients
and
15
double
heterozygotes
of
HbE
with
HbS
or
HbD
.
Beta
thalassemia
trait
was
seen
in
313
patients
and
beta
thalassemia
homozygous
in
32
.
HbS
gene
was
detected
in
460
patients
comprising
of
HbS
trait
in
189
,
HbS
disease
in
203
,
S
beta
thalassemia
in
53
and
double
heterozygotes
of
SD
and
ES
in
15
.
The
rest
comprised
of
HbD
trait
in
6
,
delta
beta
thalassemia
in
33
,
hereditary
persistence
of
fetal
hemoglobin
trait
in
5
and
J
chain
hemoglobinopathy
in
8
patients
.
Evidence
of
alpha
thalassemia
though
suspected
,
could
not
be
confirmed
.
A
high
incidence
of
hemoglobinopathies
and
thalassemias
and
their
combinations
is
unique
for
this
part
of
the
country
.
Diseases
Validation
Diseases presenting
"high performance"
symptom
alpha-thalassemia
benign recurrent intrahepatic cholestasis
canavan disease
cystinuria
familial hypocalciuric hypercalcemia
neonatal adrenoleukodystrophy
pyruvate dehydrogenase deficiency
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